Fragile X syndrome in Ricaurte, Colombia

Wilmar Saldarriaga Gil

doi:10.25100/peu.149

Fragile X syndrome in Ricaurte, Colombia

https://doi.org/10.25100/peu.149

Autores

Wilmar Saldarriaga Gil Universidad del Valle

Resumen

Estadísticas

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Biografía del Autor

Wilmar Saldarriaga Gil, Universidad del Valle

Born in Cali in 1974. Professor of the Department of Morphology, and Department of Gynecology and Obstetrics of the Universidad del Valle; of which he graduated as a doctor and surgeon, and which he represented as a student in research congresses, obtaining several awards, the most impor-tant being the "XI Aventis-National Academy of Medicine Award" (2000) for the best research work in the area clinic. Is an obstetrician-gynecologist and holds a Master's degree in Basic Medical Sciences with Emphasis in Embryo-logy and Genetics from Universidad del Valle. In the "V World Congress of Perinatology and XXVI Colombian Congress of Obstetrics and Gynecology" (Cartagena, 2008), it obtained the first place in the category of free works of research in perinatology. And prize for the best research work in the National Congresses of Obstetrics and Gynecology, in the years 2010 and 2016.Director of the research group on Perinatal Congenital Malformations, Dysmorphology and Medical Genetics, MACOS, from Universidad del Va-lle, category A of Colciencias. It has 80 publications in indexed journals, including: Colombia Médica, Colombian Journal of Obstetrics and Gyneco-logy, British Medical Journal Case Report, Birth Defects, American Journal of Obstetrics & Gynecology, NeuroToxicology, Journal of Human Genetics. Author of the books Fundamentals of Obstetrics and Gynecology and Inte-grated Human Embryology. In 2014, he received the "Best Medical Educa-tor of Colombia" prize in the "Young Educator" category from Ascofame. In October 2017 he received his PhD in Biomedical Sciences with an emphasis in Medical Genetics from the Universidad del Valle, his thesis received me-ritorious mention, during the last year of the doctorate he did training at the MIND Institute of the University of California at Davis.

Referencias bibliográficas

Chapter 1

Tolmie J. ? this is not the correct author. What chapter are you citing here?Fragile X Syndrome - Diagnosis, Treatment and Research: Third edition. Editors Randi Jenssen Hagerman, Paul J Hagerman. . Baltimore: The Johns Hopkins University Press. 2002. ISBN 0-8018-6844-0. Is this another reference here? If so then renumber itJ Med Genet. 2002 Oct;39(10):783-783.

https://doi.org/10.1136/jmg.39.10.783

Martin JP, Bell J. A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE. J Neurol Psychiatry [Internet]. 1943 Jul [cited 2014 Aug 31];6(3-4):154-7. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgiartid=1090429&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1136/jnnp.6.3-4.154

Loesch DZ, Huggins RM, Bui QM, Epstein JL, Taylor AK, Hagerman RJ. Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis. J Dev Behav Pediatr. 2002 Dec;23(6):416-23.

https://doi.org/10.1097/00004703-200212000-00004

Hagerman RJ, Hagerman PJ. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3rd ed. Hagerman RJ, Hagerman PJ, editors. Baltimore: The John Hopkins University Press; 2002.

OMIM Entry - # 300624 - FRAGILE X MENTAL RETARDATION SYNDROME [Internet]. [cited 2014 Aug 31]. Available from: http://www.omim.org/entry/300624

Enfermedades C para el C de. Fragile X sindrome (FXS). [Internet]. Prevencion, Centro para el Control de Enfermedades y. 2013. Available from: http:// www.cdc.gov/ncbddd/fxs/index.html

Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest [Internet]. 2012 Dec 3 [cited 2014 Aug 24];122(12):4314-22. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgiartid=3533539&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1172/JCI63141

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Sindrome de X Fragil. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Pietrobono R, Tabolacci E, Zalfa F, Zito I, Terracciano A, Moscato U, et al. Molecular dissection of the events leading to inactivation of the FMR1 gene. Hum Mol Genet [Internet]. 2005 Jan 15 [cited 2014 Aug 31];14(2):267-77. Available from: http://hmg.oxfordjournals.org/content/14/2/267.long

https://doi.org/10.1093/hmg/ddi024

Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell [Internet]. 1991 Aug 23 [cited 2014 Aug 31];66(4):817-22. Available from: http://www.ncbi.nlm.nih.gov/pubmed/1878973

https://doi.org/10.1016/0092-8674(91)90125-I

Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W. A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome. Am J Hum Genet [Internet]. 2009 Dec [cited 2014 Aug 31];85(5):606-16. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgiartid=2775827&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1016/j.ajhg.2009.09.018

Stoger R, Kajimura TM, Brown WT, Laird CD. Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1. Hum Mol Genet [Internet]. 1997 Oct [cited 2014 Aug 31];6(11):1791-801. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9302255

Malter HE, Iber JC, Willemsen R, de Graaff E, Tarleton JC, Leisti J, et al. Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet [Internet]. 1997 Mar [cited 2014 Aug 31];15(2):165-9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9020841

Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet [Internet]. 1992 Oct [cited 2014 Aug 31];1(6):397-400. Available from: http://www.ncbi.nlm.nih.gov/pubmed/1301913

https://doi.org/10.1093/hmg/1.6.397

Darnell JC, Van Driesche SJ, Zhang C, Hung KYS, Mele A, Fraser CE, et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell [Internet]. 2011 Jul 22 [cited 2014 Jul 23];146(2):247-61. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgiartid=3232425&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1016/j.cell.2011.06.013

Brown V, Jin P, Ceman S, Darnell JC, O'Donnell WT, Tenenbaum SA, et al. Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell [Internet]. 2001 Dec 16 [cited 2014 Aug 31];107(4):477-87. Available from: http://www.ncbi.nlm.nih.gov/ pubmed/11719188

https://doi.org/10.1016/S0092-8674(01)00568-2

Chen L, Yun SW, Seto J, Liu W, Toth M. The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences. Neuroscience [Internet]. 2003 Jan [cited 2014 Aug 31];120(4):1005-17. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12927206

https://doi.org/10.1016/S0306-4522(03)00406-8

Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell [Internet]. 1993 Jul 30 [cited 2014 Aug 31];74(2):291-8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7688265

https://doi.org/10.1016/0092-8674(93)90420-U

Ashley CT, Wilkinson KD, Reines D, Warren ST. FMR1 protein: conserved RNP family domains and selective RNA binding. Science [Internet]. 1993 Oct 22 [cited 2014 Aug 26];262(5133):563-6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7692601

https://doi.org/10.1126/science.7692601

Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci [Internet]. 2004 Jul [cited 2014 Jul 10];27(7):370-7. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15219735

https://doi.org/10.1016/j.tins.2004.04.009

Gatto CL, Broadie K. Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models. Front Synaptic Neurosci [Internet]. 2010 Jan [cited 2014 Aug 22];2:4. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgiartid=3059704&tool=pmcentrez&rendertype=abstract

https://doi.org/10.3389/fnsyn.2010.00004

Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet [Internet]. 2003 Mar [cited 2014 Aug 31];72(2):454-64. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379237&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1086/367713

Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn [Internet]. 2009 Jul [cited 2014 Aug 31];11(4):306-10. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2710706&tool=pmcentrez&rendertype=abstract

https://doi.org/10.2353/jmoldx.2009.080174

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Fragile X syndrome. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell [Internet]. 1991 May 31 [cited 2014 Aug 28];65(5):905-14. Available from: http://www.ncbi.nlm.nih.gov/pubmed/1710175

https://doi.org/10.1016/0092-8674(91)90397-H

Martin JR, Arici A. Fragile X and reproduction. Curr Opin Obstet Gynecol. 2008 Jun;20(3):216-20.

https://doi.org/10.1097/GCO.0b013e3282fe7254

Gane L, Abrams L. Genetic Counseling for FXTAS and Fragile X-Associated Disorders. In: Tassone F, Hall DA, editors. FXTAS, FXPOI, and Other Premutation Disorders. Second. Switzerland: Springer; 2016. p. 263-85.

https://doi.org/10.1007/978-3-319-33898-9_13

Cronister A, DiMaio M, Mahoney MJ, Donnenfeld AE, Hallam S. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med [Internet]. Nature Publishing Group; 2005 Apr [cited 2017 Mar 8];7(4):246-50. Available from: http://www.nature.com/doifinder/10.1097/01.GIM.0000159898.90221.D3

https://doi.org/10.1097/01.GIM.0000159898.90221.D3

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet [Internet]. 2009 Oct [cited 2014 Aug 28];85(4):503-14. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2756550&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1016/j.ajhg.2009.09.007

Hirst MC, Knight SJ, Christodoulou Z, Grewal PK, Fryns JP, Davies KE. Origins of the fragile X syndrome mutation. J Med Genet [Internet]. 1993 Aug [cited 2014 Aug 31];30(8):647-50. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016491&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1136/jmg.30.8.647

Tassone F, Iong KP, Tong T-H, Lo J, Gane LW, Berry-Kravis E, et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med [Internet]. 2012 Jan [cited 2014 Aug 31];4(12):100. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=4064316&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1186/gm401

Macpherson JN, Murray A. Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations. Genes (Basel). Multidisciplinary Digital Publishing Institute (MDPI); 2016 Nov;7(12).

https://doi.org/10.3390/genes7120110

Hunter J, Rivero-arias O, Angelov A, Kim E, Fotheringham I, Leal J, et al. Epidemiology of Fragile X Syndrome : A Systematic Review and Meta-Analysis. 2014;1648-58.

https://doi.org/10.1002/ajmg.a.36511

Metcalfe S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, et al. A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genet Med [Internet]. 2008 Jul [cited 2017 Mar 8];10(7):525-35. Available from: http://www.ncbi.nlm.nih.gov/pubmed/18580686

https://doi.org/10.1097/GIM.0b013e31817c036e

Fernandez-Carvajal I, Walichiewicz P, Xiaosen X, Pan R, Hagerman PJ, Tassone F. Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn. 2009 Jul;11(4):324-9.

https://doi.org/10.2353/jmoldx.2009.080173

Rife M, Badenas C, Mallolas J, Jimenez L, Cervera R, Maya A, et al. Incidence of Fragile X in 5,000 Consecutive Newborn Males. Genet Test [Internet]. 2003 Dec [cited 2017 Mar 8];7(4):339-43. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15000813

https://doi.org/10.1089/109065703322783725

Tassone F. Advanced technologies for the molecular diagnosis of fragile X syndrome. Expert Rev Mol Diagn [Internet]. NIH Public Access; 2015 [cited 2017 Mar 8];15(11):1465-73. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26489042

https://doi.org/10.1586/14737159.2015.1101348

Muzar Z, Lozano R, Kolevzon A, Hagerman RJ. The neurobiology of the Prader- Willi phenotype of fragile X syndrome. Intractable rare Dis Res [Internet]. International Advancement Center for Medicine & Health Research Co.; 2016 Nov [cited 2017 Mar 8];5(4):255-61. Available from: http://www.ncbi.nlm.nih. gov/pubmed/27904820

https://doi.org/10.5582/irdr.2016.01082

OMIM Clinical Synopsis - #117550 - SOTOS SYNDROME 1; SOTOS1 [Internet]. [cited 2014 Nov 28]. Available from: http://omim.org/clinicalSynopsis/117550?search=sotos&highlight=soto

OMIM Clinical Synopsis - #176270 - PRADER-WILLI SYNDROME; PWS [Internet]. [cited 2014 Nov 28]. Available from: http://omim.org/clinicalSynopsis/176270?search=&highlight=prader

Dewald GW, Buckley DD, Spurbeck JL, Jalal SM. Cytogenetic guidelines for fragile X studies tested in routine practice. Am J Med Genet. 1992 Dec;44(6):816-21.

https://doi.org/10.1002/ajmg.1320440620

Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, et al. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Vol. 14, Genetics in Medicine. 2012. p. 729-36.

https://doi.org/10.1038/gim.2012.34

Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science. 1991 May; 252(5009): 1097-102.

https://doi.org/10.1126/science.252.5009.1097

Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, et al. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010;56(3):399-408.

https://doi.org/10.1373/clinchem.2009.136101

Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, et al. An information- rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn. American Society for Investigative Pathology and Association for Molecular Pathology; 2010;12(5):589-600.

https://doi.org/10.2353/jmoldx.2010.090227

F T, R P, K A, AK T, PJ H. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008 Jan;10(1):43-9.

https://doi.org/10.2353/jmoldx.2008.070073

Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008;10:43-9.

https://doi.org/10.2353/jmoldx.2008.070073

Eisel D, Seth O, Grünewald-Janho, Stefanie, Kruchen B, Rüger Pb. DIG Application Manual for Filter Hybridization. Roche Diagnostics GmbH; 2008.

Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ. Fragile X syndrome: A review of clinical management. Intractable rare Dis Res [Internet]. International Advancement Center for Medicine & Health Research Co.; 2016 Aug [cited 2017 Mar 8];5(3):145-57. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27672537

https://doi.org/10.5582/irdr.2016.01048

Indah Winarni T, Chonchaiya W, Adams E, Au J, Mu Y, Rivera SM, et al. Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review. Autism Res Treat [Internet]. 2012 [cited 2017 Mar 8];2012:1-8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22934167

Pirozzi F, Tabolacci E, Neri G. The FRAXopathies: Definition, overview, and update. Am J Med Genet Part A. 2011;155(8):1803-16.

https://doi.org/10.1002/ajmg.a.34113

Cordeiro L, Abucayan F, Hagerman R, Tassone F, Hessl D. Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands. Intractable Rare Dis Res [Internet]. 2015 Aug [cited2017 Mar 8];4(3):123-30. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26361563

https://doi.org/10.5582/irdr.2015.01029

Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome -features, mechanisms and management. Nat Rev Neurol [Internet]. 2016 Jun 24 [cited 2017 Mar 8];12(7):403-12. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27340021

https://doi.org/10.1038/nrneurol.2016.82

Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, et al. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet Part B Neuropsychiatr Genet [Internet]. 2005 Nov 5 [cited 2017 Mar 8];139B(1):115-21. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16184602

https://doi.org/10.1002/ajmg.b.30241

Schneider A, Johnston C, Tassone F, Sansone S, Hagerman RJ, Ferrer E, et al. Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation. Clin Neuropsychol [Internet]. 2016 Aug 17 [cited 2017 Mar 8];30(6):929-43. Available from: http://www.tandfonline.com/doi/full/10.1080/13854046.2016.1189536

https://doi.org/10.1080/13854046.2016.1189536

Grigsby J, Brega AG, Bennett RE, Bourgeois JA, Seritan AL, Goodrich GK, et al. Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning. Clin Neuropsychol [Internet]. 2016 Aug 17 [cited 2017 Mar 8];30(6):944-59. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27355103

https://doi.org/10.1080/13854046.2016.1185100

Lozano R, Saito N, Reed D, Eldeeb M, Schneider A, Hessl D, et al. Aging in Fragile X Premutation Carriers. The Cerebellum [Internet]. Springer US; 2016 Oct 22 [cited 2017 Mar 8];15(5):587-94. Available from: http://link.springer.com/10.1007/s12311-016-0805-x

https://doi.org/10.1007/s12311-016-0805-x

Wheeler AC, Bailey DB, Berry-Kravis E, Greenberg J, Losh M, Mailick M, et al. Associated features in females with an FMR1 premutation. J Neurodev Disord [Internet]. 2014 Dec 30 [cited 2017 Mar 8];6(1):18. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25097672

https://doi.org/10.1186/1866-1955-6-30

Chonchaiya W, Au J, Schneider A, Hessl D, Harris SW, Laird M, et al. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet [Internet]. NIH Public Access; 2012 Apr [cited 2017 Mar 8];131(4):581-9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22001913

https://doi.org/10.1007/s00439-011-1106-6

Hall D, Mailick M. The epidemiology of FXTAS. In: Tassone F, editor. FXTAS, FXPOI, and Other Premutation Disorders. Second. Switzerland: Springer; 2016. p. 25.38.

https://doi.org/10.1007/978-3-319-33898-9_2

Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol [Internet]. 2013 Aug [cited 2014 Aug 21];12(8):786-98. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3922535&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1016/S1474-4422(13)70125-X

Wang JY, Hessl D, Iwahashi C, Cheung K, Schneider A, Hagerman RJ, et al. Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles. Neuroimage. Elsevier Inc.;2013 Jan;65:288-98.

https://doi.org/10.1016/j.neuroimage.2012.09.075

Saldarriaga Gil W, Forero Forero JV, Gonzalez Teshima LY, Hagerman R. Sindrome de temblor y ataxia asociado a fragil X (FXTAS): revision de la literatura . Vol. 31, Acta Neurologica Colombiana . scieloco ; 2015. p. 335-41.

Iwahashi CK, Yasui DH, An H-J, Greco CM, Tassone F, Nannen K, et al. Protein composition of the intranuclear inclusions of FXTAS. Brain [Internet]. 2005 Nov 29 [cited 2017 Mar 8];129(1):256-71. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16246864

https://doi.org/10.1093/brain/awh650

Hoem G, Raske CR, Garcia-Arocena D, Tassone F, Sanchez E, Ludwig AL, et al. CGG-repeat length threshold for FMR1 RNA pathogenesis in a celular model for FXTAS. Hum Mol Genet [Internet]. 2011 Jun 1 [cited 2017 Mar 8];20(11):2161-70. Available from: http://www.ncbi.nlm.nih.gov/pubmed/21389081

https://doi.org/10.1093/hmg/ddr101

Hagerman P. Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol. 2013 Jul;126(1):1-19.

https://doi.org/10.1007/s00401-013-1138-1

Berry-Kravis E, Abrams L, Coffey SM, Hall DA, Greco C, Gane LW, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord. 2007/07/10. 2007; 22(14):2018-30, quiz 2140.

https://doi.org/10.1002/mds.21493

Hall D a, O'Keefe J a. Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome. Neurol Clin. 2013 Nov;31(4):1073-84.

Leehey MA. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med. 2009 Dec;57(8):830-6.

https://doi.org/10.2310/JIM.0b013e3181af59c4

Juncos JL, Lazarus JT, Rohr J, Allen EG, Shubeck L, Hamilton D, et al. Olfactory dysfunction in fragile X tremor ataxia syndrome. Mov Disord [Internet]. NIH Public Access; 2012 Oct [cited 2017 Mar 8];27(12):1556-9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23079771

https://doi.org/10.1002/mds.25043

Schneider A, Ballinger E, Chavez A, Tassone F, Hagerman RJ, Hessl D. Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Neurobiol Aging [Internet]. 2012 Jun [cited 2017 Mar 8];33(6):1045-53. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20961665

https://doi.org/10.1016/j.neurobiolaging.2010.09.002

Juncos JL, Lazarus JT, Graves-Allen E, Shubeck L, Rusin M, Novak G, et al. New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics [Internet]. 2011 May 29 [cited 2017 Mar 8];12(2):123-35.Available from: http://www.ncbi.nlm.nih.gov/pubmed/21279400

https://doi.org/10.1007/s10048-010-0270-5

Bourgeois JA, Cogswell JB, Hessl D, Zhang L, Ono MY, Tassone F, et al. Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry [Internet]. Jan [cited 2014 Aug 31];29(4):349-56. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3991490&tool=pmcentrez&rendertype=abstract

https://doi.org/10.1016/j.genhosppsych.2007.03.003

Bourgeois J a, Seritan AL, Casillas EM, Hessl D, Schneider A, Yang Y, et al. Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry. 2011 Feb;72(2):175-82.

Wang JY, Hagerman RJ, Rivera SM. A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers. Mov Disord. 2013 Aug;28(9):1278-84.

https://doi.org/10.1002/mds.25473

https://doi.org/10.1002/mds.21493

Halket E, Wang JY, Hessl D, Rivera SM. Neuroimaging Finding in FXTAS. In: Tassone F, Hall D, editors. FXTAS, FXPOI, and Other Premutation Disorders. Second. Switzerland: Springer; 2016. p. 71-86.

https://doi.org/10.1007/978-3-319-33898-9_4

O'Dwyer JP, Clabby C, Crown J, Barton DE, Hutchinson M. Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. Neurology [Internet]. 2005 Jul 26 [cited 2017 Mar 8];65(2):331-2. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16043816

https://doi.org/10.1212/01.wnl.0000168865.36352.53

Muzar Z, Adams PE, Schneider A, Hagerman RJ, Lozano R. Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases. Intractable rare Dis Res [Internet]. International Advancement Center for Medicine & Health Research Co.; 2014 Nov [cited 2017 Mar 8];3(4):162-5. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25606366

https://doi.org/10.5582/irdr.2014.01023

Ross-Inta C, Omanska-Klusek A, Wong S, Barrow C, Garcia-Arocena D, Iwahashi C, et al. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J [Internet]. 2010 Aug 1 [cited 2017 Mar 8];429(3):545-52. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20513237

https://doi.org/10.1042/BJ20091960

Napoli E, Ross-Inta C, Wong S, Omanska-Klusek A, Barrow C, Iwahashi C, et al. Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet [Internet]. 2011 Aug 1 [cited 2017 Mar 8];20(15):3079-92. Available from: http://www.ncbi.nlm.nih.gov/pubmed/21558427

https://doi.org/10.1093/hmg/ddr211

Seritan AL, Nguyen D V., Mu Y, Tassone F, Bourgeois JA, Schneider A, et al. Memantine for Fragile X-Associated Tremor/Ataxia Syndrome. J Clin Psychiatry [Internet]. 2014 Mar 15 [cited 2017 Mar 8];75(3):264-71. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24345444

https://doi.org/10.4088/JCP.13m08546

Yang J-C, Rodriguez A, Royston A, Niu Y-Q, Avar M, Brill R, et al. Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. Sci Rep [Internet]. 2016 Apr 22 [cited 2017 Mar 8];6(1):21719. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26898832

https://doi.org/10.1038/srep21719

Cao Z, Hulsizer S, Cui Y, Pretto DL, Kim KH, Hagerman PJ, et al. Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion. J Biol Chem [Internet]. American Society for Biochemistry and Molecular Biology; 2013 May 10 [cited 2017 Mar 8];288(19):13831-41. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23553633

https://doi.org/10.1074/jbc.M112.441055

Murray A, Webb J, Grimley S, Conway G, Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet. 1998;35(8):637-40.

https://doi.org/10.1136/jmg.35.8.637

Palacios S, Henderson VW, Siseles N, Tan D, Villaseca P. Age of menopause and impact of climacteric symptoms by geographical region. Climacteric [Internet]. 2010 Oct 7 [cited 2017 Mar 8];13(5):419-28. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20690868

https://doi.org/10.3109/13697137.2010.507886

Sherman S, Allen EG, Jesica S. Clinical manifestation and management of FXPOI. In: Tassone F, Hall DA, editors. FXTAS, FXPOI, and Other Premutation Disorders. Second. Switzerland: Springer; 2016. p. 199-224.

https://doi.org/10.1007/978-3-319-33898-9_10

Wheeler AC, Raspa M, Green A, Bishop E, Bann C, Edwards A, et al. Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency. Front Genet [Internet]. 2014 Sep 8 [cited 2017 Mar 8];5:300. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25250044

https://doi.org/10.3389/fgene.2014.00300

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Garcia-Garcia F, Duran M, Dopazo J, et al. Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. Gene. 2015;571(1):52-7.

https://doi.org/10.1016/j.gene.2015.06.039

Dixit H, Rao L, Padmalatha V, Raseswari T, Kapu AK, Panda B, et al. Genes governing premature ovarian failure. Reprod Biomed Online. Elsevier; 2010 Jun;20(6):724-40.

https://doi.org/10.1016/j.rbmo.2010.02.018

Welt CK, Smith PC, Taylor AE. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab. 2004 Sep;89(9):4569-74.

https://doi.org/10.1210/jc.2004-0347

Platteau P, Sermon K, Seneca S, Van Steirteghem A, Devroey P, Liebaers I. Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible. Hum Reprod. 2002 Nov;17(11):2807-12.

https://doi.org/10.1093/humrep/17.11.2807

Todd PK, Oh SY, Krans A, Pandey UB, Di Prospero NA, Min K-T, et al. Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet. 2010;6(12):e1001240.

https://doi.org/10.1371/journal.pgen.1001240

Barasoain M, Barrenetxea G, Huerta I, Telez M, Criado B, Arrieta I. Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene. Genes (Basel) [Internet]. Multidisciplinary Digital Publishing Institute (MDPI); 2016 Dec 13 [cited 2017 Mar 8];7(12). Available from: http://www.ncbi.nlm.nih.gov/pubmed/27983607

https://doi.org/10.3390/genes7120123

Usdin K, Hukema R, Sherman S. Model systems for understanding FXPOI. In: Tassone F, Hall D, editors. FXTAS, FXPOI, and Other Premutation Disorders. second. Switzerland: Springer; 2016. p. 225-40.

https://doi.org/10.1007/978-3-319-33898-9_11

Chapter 2

Hagerman RJ, Hagerman PJ, editores. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3ra. ed. Baltimore: The John Hopkins University Press; 2002. p. 3-206.

Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ. Fragile X syndrome: A review of clinical management. Intractable Rare Dis Res [Internet]; 2016 ago [consulta 2017 mar 8];5(3):145-57. doi: 10.5582/irdr.2016.01048

https://doi.org/10.5582/irdr.2016.01048

Wirojanan J, Jacquemont S, Diaz R, Bacalman S, Anders TF, Hagerman RJ, et al. The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. J Clin Sleep Med [Internet]. 2009 abr [consulta 2017 mar 8];5(2):145-50. doi: 10.1097/01.DBP.0000285658.74300.b2

https://doi.org/10.1097/01.DBP.0000285658.74300.b2

Bailey DB, Raspa M, Olmsted M, Holiday DB. Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am J Med Genet A [Internet]. 2008 ago 15 [consulta 2017 mar 8];146A(16):2060-9. doi: 10.1002/ajmg.a.32439

https://doi.org/10.1002/ajmg.a.32439

Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala- Zapata S, Hagerman R. Fragile X syndrome. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Cordeiro L, Ballinger E, Hagerman R, Hessl D. Clinical assessment of DSMIV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord [Internet]. 2011 mar [consulta 2017 may 14];3(1):57-67. doi: 10.1007/s11689-010-9067-y

https://doi.org/10.1007/s11689-010-9067-y

Greiss Hess L, Fitzpatrick SE, Nguyen D V, Chen Y, Gaul KN, Schneider A, et al. A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome. J Dev Behav Pediatr [Internet]. 2016 oct [consulta 2017 may 14];37(8):619-28. doi: 10.1097/ DBP.0000000000000334

https://doi.org/10.1097/DBP.0000000000000334

Saldarriaga W, Ruiz FA, Tassone F, Hagerman R. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report. J Appl Res Intellect Disabil [Internet]. 2017 sep [consulta 2017 abr 22];30(5):970-74. doi: 10.1111/jar.12272

https://doi.org/10.1111/jar.12272

Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al. Advances in the Treatment of Fragile X Syndrome. Pediatrics [Internet]. 2009 ene [consulta 2017 abr 27];123(1):378-90. doi: 10.1542/peds.2008-0317

https://doi.org/10.1542/peds.2008-0317

Hagerman R, Hendren R, editores. Treatment of Neurodevelopmental Disorders. New York, NY: Oxford University Press; 2014.

https://doi.org/10.1093/med/9780199937806.001.0001

Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, et al. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med [Internet]. 2016 ene [consulta 2017 mar 8];8(321):321ra5. doi: 10.1126/scitranslmed.aab4109

https://doi.org/10.1126/scitranslmed.aab4109

McDuffie A, Machalicek W, Bullard L, Nelson S, Mello M, Tempero-Feigles R, et al. A Spoken-Language Intervention for School-Aged Boys With Fragile X Syndrome. Am J Intellect Dev Disabil [Internet]. 2016 may [consulta 2017 may 3];121(3):236-65. doi: 10.1352/1944-7558-121.3.236

https://doi.org/10.1352/1944-7558-121.3.236

McDuffie A, Oakes A, Machalicek W, Ma M, Bullard L, Nelson S, et al. Early Language Intervention Using Distance Video-Teleconferencing: A Pilot Study of Young Boys With Fragile X Syndrome and Their Mothers. Am J Speech Lang Pathol [Internet]. 2016 feb [consulta 2017 may 3];25(1):46-66. doi:10.1044/2015_AJSLP-14-0137

https://doi.org/10.1044/2015_AJSLP-14-0137

Tassone F, Hagerman RJ, Iklé DN, Dyer PN, Lampe M, Willemsen R, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet [Internet]. 1999 [consulta 2017 abr 23];84(3):250-61. DOI: 10.1002/(SICI)1096-8628(19990528)84:3<229::AID-AJMG13>3.0.CO;2-T

https://doi.org/10.1097/00004703-200212000-00004

Leigh MJS, Nguyen DV, Mu Y, Winarni TI, Schneider A, Chechi T, et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr [Internet]. 2013 abr [consulta 2017 abr 27];34(3):147-55. doi: 10.1097/DBP.0b013e318287cd17

https://doi.org/10.1097/DBP.0b013e318287cd17

Schneider A, Leigh MJ, Adams P, Nanakul R, Chechi T, Olichney J, et al. Electrocortical changes associated with minocycline treatment in fragile X syndrome. J Psychopharmacol [Internet]. 2013 oct [consulta 2017 abr 27];27(10):956-63. doi: 10.1177/0269881113494105

https://doi.org/10.1177/0269881113494105

Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK, et al. Outcome Measures for Clinical Trials in Fragile X Syndrome. J Dev Behav Pediatr [Internet]. 2013 sep [consulta 2017 mar 8];34(7):508-22. doi: 10.1097/DBP.0b013e31829d1f20

https://doi.org/10.1097/DBP.0b013e31829d1f20

Ligsay A, Van Dijck A, Nguyen DV, Lozano R, Chen Y, Bickel ES, et al. A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome. J Neurodev Disord [Internet]. 2017 ago 2 [consulta 2017 may 14];9(1):26. doi: 10.1186/s11689-017-9207-8

https://doi.org/10.1186/s11689-017-9207-8

Monyak RE, Emerson D, Schoenfeld BP, Zheng X, Chambers DB, Rosenfelt C, et al. Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model. Mol Psychiatry [Internet]. 2017 ago [consulta 2017 may 3];22(8):1140-1148. doi: 10.1038/mp.2016.51

https://doi.org/10.1038/mp.2016.51

Gantois I, Khoutorsky A, Popic J, Aguilar-Valles A, Freemantle E, Cao R, et al. Metformin ameliorates core deficits in a fragile X syndrome mouse model. Nature Medicine In press. Nat Med Press [Internet]. 2017 jun [consulta 2017 ene 10];23(6):674-677. doi: 10.1038/nm.4335

https://doi.org/10.1038/nm.4335

Dy ABC, Tassone F, Eldeeb M, Salcedo-Arellano MJ, Tartaglia N, Hagerman R. Metformin as targeted treatment in fragile X syndrome. Clin Genet [Internet]. 2018 feb [consulta 2017 abr 27];93(2):216-222. doi: 10.1111/cge.13039

https://doi.org/10.1111/cge.13039

Deacon RMJ, Glass L, Snape M, Hurley MJ, Altimiras FJ, Biekofsky RR, et al. NNZ-2566, a Novel Analog of (1-3) IGF-1, as a Potential Therapeutic Agent for Fragile X Syndrome. Neuromolecular Med [Internet]. 2015 mar [consulta 2017 abr 6];17(1):71-82. doi: 10.1007/s12017-015-8341-2

https://doi.org/10.1007/s12017-015-8341-2

Berry-Kravis E, Erickson C, Kolevzon A, Tartaglia N, Hagerman R, Hatti S, et al. The treatment of fragile X syndrome with trofinetide (NNZ-2566). Ann Neurol. 2016 oct;80,S412.

Bagni C, Tassone F, Neri G, Hagerman R, et al. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest [Internet]. 2012 dic [consulta 2017 abr 6];122(12):4314-22. doi: 10.1172/JCI63141

https://doi.org/10.1172/JCI63141

Erickson CA, Ray B, Maloney B, Wink LK, Bowers K, Schaefer TL, et al. Impact of acamprosate on plasma amyloid-β precursor protein in youth: a pilot analysis in fragile X syndrome-associated and idiopathic autism spectrum disorder suggests a pharmacodynamic protein marker. J Psychiatr Res [Internet]. 2014 dic [consulta 2017 feb 18];59:220-8. doi: 10.1016/j.jpsychires.2014.07.011

https://doi.org/10.1016/j.jpsychires.2014.07.011

Berry-Kravis E, Sumis A, Hervey C, Nelson M, Porges SW, Weng N, et al. Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome. J Dev Behav Pediatr [Internet]. 2008 ago [consulta 2017 feb 18];29(4):293-302. doi: 10.1097/DBP.0b013e31817dc447

https://doi.org/10.1097/DBP.0b013e31817dc447

Chapter 3

Lopez L, Ayala G. Levantamiento historico corregimiento de Ricaurte, municipio de Bolivar. Colombia: Universidad Tecnologica de Pereira; 1997.

Arias-Reyes HH. Bolivar: Valle "Capital de la paz" Historia del municipio 1534-2003. Cali: Imprenta Departamental del Valle del Cauca; 2003. 596 p.

Gardeazabal Alvarez G. El Divino. Bogota: Plaza & Janes; 1986. 233 p.

Payan C, Saldarriaga W, Isaza C, Alzate A. Estudio de foco endemico de retardo mental en Ricaurte Valle. En: XI Premio Aventis-Academia Nacional de Medicina a la Investigacion Medica. Bogota: Academia Nacional de Medicina; 2000. p. 12-20.

Chapter 4

Castilla EE, Schuler-Faccini L. From rumors to genetic isolates. Genet Mol Biol [Internet]. 2014 mar [consulta 2017 abr 21];37(1 Suppl):186-93. doi: 10.1590/S1415-47572014000200005

https://doi.org/10.1590/S1415-47572014000200005

Vianna FSL, Schuler-Faccini L, Leite JCL, de Sousa SHC, da Costa LMM, Dias MF, et al. Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings. Clin Dysmorphol [Internet]. 2013 abr [consulta 2017 abr 21];22(2):59-63. doi: 10.1097/MCD.0b013e32835ffc58

https://doi.org/10.1097/MCD.0b013e32835ffc58

Matte U, Le Roux MG, Benichou B, Moisan JP, Giugliani R. Study on posible increase in twinning rate at a small village in south Brazil. Acta Genet Med Gemellol (Roma) [Internet]. 1996 [consulta 2017 mar 13];45(4):431-7. doi: 10.1017/S0001566000000829

https://doi.org/10.1017/S0001566000000829

Tagliani-Ribeiro A, Paskulin DD, Oliveira M, Zagonel-Oliveira M, Longo D, Ramallo V, et al. High twinning rate in Candido Godoi: a new role for p53 in human fertility. Hum Reprod [Internet]. 2012 jun [consulta 2017 mar 15];27(9): 2866-2871. doi: 10.1093/humrep/des217

https://doi.org/10.1093/humrep/des217

Poletta FA, Castilla EE, Orioli IM, Lopez-Camelo JS. Regional analysis on the occurrence of oral clefts in South America. Am J Med Genet A [Internet]. 2007 dic [consulta 2017 mar 15];143A(24):3216-27. doi: 10.1002/ajmg.a.32076

Lopera F. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA [Internet]. 1997 mar [consulta 2017 mar 4];277(10):793-9. doi: 10.1001/jama.277.10

Hagerman RJ, Hagerman PJ, editores. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3ra. ed. Baltimore: The John Hopkins University Press; 2002.

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet [Internet]. 2009 oct [consulta 2017 mar 13];85(4):503-14. doi: 10.1016/j.ajhg.2009.09.007

https://doi.org/10.1016/j.ajhg.2009.09.007

Hirst MC, Knight SJ, Christodoulou Z, Grewal PK, Fryns JP, Davies KE. Origins of the fragile X syndrome mutation. J Med Genet [Internet]. 1993 ago [consulta 2017 abr 10];30(8):647-50.

https://doi.org/10.1136/jmg.30.8.647

Payan C, Saldarriaga W, Isaza C, Alzate A. Estudio de foco endemico de retardo mental en Ricaurte Valle. En: XI premio Aventis-Academia Nacional de Medicina a la Investigacion Medica. Bogota: Academia Nacional de Medicina; 2000. p. 12-20.

Gardeazabal Alvarez G. El divino. Bogota: Plaza & Janes; 1986. 233 p.

Beldarrain Chaple E. Henry E. Sigerist y la medicina social occidental. Rev Cuba Salud Publica. 2002;28(1):62-70.

Restrepo H. La promocion de la salud y la prevencion de riesgos y de enfermedades: un debate presente. Documento para el Foro CIPS-2007; 2007.

Mahler H. El sentido de "la salud para todos en el ano 2000". Foro Mund Salud. 1981;2(1):5-25.

OMS. Carta de Ottawa para la promocion de la salud. Promoc La Salud. 1986;5.

Czeresnia D. El concepto de salud y la diferencia entre prevencion y promocion. En: Czeresnia D, Machado de Freitas C, organizadores. Promocion de la Salud: Conceptos, reflexiones, tendencias. Buenos Aires: Lugar; 2008.

Julio V, Vacarezza M, Alvarez C, Sosa A. Niveles de atencion, de prevencion y atencion primaria de la salud. Prensa Med Latinoam. 2011;XXXIII(1):11-4.

Verges C. Genetica y bioetica en America Latina. Acta Bioeth [Internet]. 2004 [consulta 2017 may 11];10(2):155-66. doi: 10.4067/S1726-569X2004000200004

https://doi.org/10.4067/S1726-569X2004000200004

Motta M de L. El proyecto del genoma humano y la consejeria genetica. Derecho y Cult. 2001-2002;5. Disponible en: https://goo.gl/TkZp7D

Fraser FC. Genetic counseling. Am J Hum Genet [Internet]. 1974 sep [consulta 2017 abr 10];26(5):636-59. Disponible en: https://goo.gl/rh1EyK

Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al., editores. Illustrated Glossary. GeneReviewsR [Internet]. 1993-2018 [consulta 2017 mar 18]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK5191

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Fragile X syndrome. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Tabolacci E, Pietrobono R, Moscato U, Oostra BA, Chiurazzi P, Neri G. Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. Eur J Hum Genet [Internet]. 2005 may [consulta 2017 abr 3];13(5):641-8. doi: 10.1038/sj.ejhg.5201393

https://doi.org/10.1038/sj.ejhg.5201393

Tabolacci E, De Pascalis I, Accadia M, Terracciano A, Moscato U, Chiurazzi P, et al. Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. Pharmacogenet Genomics [Internet]. 2008 ago [consulta 2017 abr 2];18(8):738-41. doi: 10.1097/FPC.0b013e32830500a1

https://doi.org/10.1097/FPC.0b013e32830500a1

Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest [Internet]. 2012 dic [consulta 2017 feb 14];122(12):4314-22. doi: 10.1172/JCI63141

https://doi.org/10.1172/JCI63141

https://doi.org/10.1097/00004703-200212000-00004

Hagerman R, Wheeler A, Fitzpatrick S, Hunter J. Premutation-asociated disorders in childhood and adulthood. En: Tassone F, Hall DA, editores. FXTAS, FXPOI, and Other Premutation Disorders. 2da. ed. Switzerland: Springer; 2016. p. 241-62.

https://doi.org/10.1007/978-3-319-33898-9_12

Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn [Internet]. 2009 jul [consulta 2017 mar 15];11(4):306-10. doi: 10.2353/jmoldx.2009.080174

https://doi.org/10.2353/jmoldx.2009.080174

Gane L, Abrams L. Genetic Counseling for FXTAS and Fragile X-Associated Disorders. En: Tassone F, Hall DA, editores. FXTAS, FXPOI, and Other Premutation Disorders. 2da. ed. Switzerland: Springer; 2016. p. 263-85.

https://doi.org/10.1007/978-3-319-33898-9_13

McGregor S. The New Genetics and the Public's Health: Alan Petersen and Robin Bunton Routledge, London, April 2002. Health Promot Int [Internet]. 2003 mar [consulta 2017 mar 24];18(1):79-80. doi: 10.1093/heapro/18.1.79

https://doi.org/10.1093/heapro/18.1.79

Chapter 5

Hagerman RJ. The Physical and Behavioral Phenotype. En: Hagerman RJ, Hagerman PJ, editores. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3ra. ed. Baltimore: The John Hopkins University Press; 2002. p. 2-109.

Pirozzi F, Tabolacci E, Neri G. The FRAXopathies: Definition, overview, and update. Am J Med Genet A [Internet]. 2011 ago [consulta 2014 ago 31];155(8):1803-16. doi: 10.1002/ajmg.a.34113

https://doi.org/10.1002/ajmg.a.34113

Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W. A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome. Am J Hum Genet [Internet]. 2009 dic [consulta 2014 ago 31];85(5):606-16. doi: 10.1016/j. ajhg.2009.09.018

https://doi.org/10.1016/j.ajhg.2009.09.018

Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest [Internet]. 2012 dic 3 [consulta 2014 ago 24];122(12):4314-22. doi: 10.1172/JCI63141

https://doi.org/10.1172/JCI63141

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Fragile X syndrome. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Tassone F. Advanced technologies for the molecular diagnosis of fragile X syndrome. Expert Rev Mol Diagn [Internet]; 2015 [consulta 2017 mar ];15(11):1465-73. doi: 10.1586/14737159.2015.1101348

https://doi.org/10.1586/14737159.2015.1101348

Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med [Internet]. 2012 ene [consulta 2014 ago 22];4(12):100. doi: 10.1186/gm401

https://doi.org/10.1186/gm401

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet [Internet]. 2009 oct [consulta 2014 ago 28];85(4):503-14. doi: 10.1016/j.ajhg.2009.09.007

https://doi.org/10.1016/j.ajhg.2009.09.007

Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet [Internet]. 1996 jul 12 [consulta 2014 ago 31];64(1):196-7. doi:

https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G

1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G

Puusepp H, Kahre T, Sibul H, Soo V, Lind I, Raukas E, et al. Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population. J Child Neurol [Internet]. 2008 dic [consulta 2014 sep 3];23(12):1400-5. doi: 10.1177/0883073808319071

https://doi.org/10.1177/0883073808319071

De Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey: Collaborative Fragile X Study Group. Am J Hum Genet. 1997 sep;61(3):660-7.

https://doi.org/10.1086/515496

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J, et al. Epidemiology of Fragile X Syndrome: A Systematic Review and Meta-Analysis. Am J Med Genet A [Internet]. 2014 jul [consulta 2017 mar 8];164A(7):1648-58. doi: 10.1002/ajmg.a.36511

https://doi.org/10.1002/ajmg.a.36511

Dewald GW, Buckley DD, Spurbeck JL, Jalal SM. Cytogenetic guidelines for fragile X studies tested in routine practice. Am J Med Genet [Internet]. 1992 dic [consulta 2017 mar 8];44(6):816-21. doi: 10.1002/ajmg.1320440620

https://doi.org/10.1002/ajmg.1320440620

https://doi.org/10.2353/jmoldx.2009.080173

https://doi.org/10.1373/clinchem.2009.136101

Brown WT. The Molecular Biology of the Fragile X Mutation. En: Hagerman RJ, Hagerman PJ, editores. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3ra. ed. Baltimore: The John Hopkins University Press; 2002. p. 110-135.

Eisel D, Seth O, Grünewald-Janho, S, Kruchen B, Rüger B. DIG Application Manual for Filter Hybridization. Roche Diagnostics GmbH; 2008.

Forster J, O'Hagan A. Kendalls Advanced Theory Of Statistics 2Ed Vol 2B (Pb 2015). 2da. ed. London: Wiley India Exclusive; 2015.

Gelman A, Carlin JB, Stern HS, Dunson DB, Vehtari A, Rubin DB. Bayesian data analysis. 3ra. ed. Boca Raton: Chapman and Hall/CRC; 2013.

https://doi.org/10.1201/b16018

Sturtz S, Ligges U, Gelman A. R2WinBUGS : A Package for Running WinBUGS from R. J Stat Softw [Internet]. 2005 ene [consulta 2017 mar 8];12(3):1-16. doi:10.18637/jss.v012.i03

https://doi.org/10.18637/jss.v012.i03

Turner G, Robinson H, Laing S, Purvis-Smith S. Preventive Screening for the Fragile X Syndrome. N Engl J Med [Internet]. 1986 [consulta 2014 ago 31];315:607-609. doi: 10.1056/NEJM198609043151002

https://doi.org/10.1056/NEJM198609043151002

Webb TP, Bundey S, Thake A, Todd J. The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet [Internet]. 1986 oct 1 [consulta 2014 ago 31];23(5):396-9. doi: 10.1136/jmg.23.5.396

https://doi.org/10.1136/jmg.23.5.396

Rife M, Badenas C, Mallolas J, Jimenez L, Cervera R, Maya A, et al. Incidence of Fragile X in 5,000 Consecutive Newborn Males. Genet Test [Internet]. 2003 dic [consulta 2017 mar 8];7(4):339-43. doi: 10.1089/109065703322783725

https://doi.org/10.1089/109065703322783725

Tzeng CC, Tsai LP, Hwu WL, Lin SJ, Chao MC, Jong YJ, et al. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. Am J Med Genet A [Internet]. 2005 feb [consulta 2017 mar 8];133A(1):37-43. doi: 10.1002/ajmg.a.30528

https://doi.org/10.1002/ajmg.a.30528

Chow JC, Chen DJ, Lin CN, Chiu CY, Huang CB, Chiu PC, et al. Feasibility of blood spot PCR in large-scale screening of fragile X syndrome in southern Taiwan. J Formos Med Assoc [Internet]. 2003 ene [consulta 2017 mar 11];102(1):12-6.

Crawford DC, Meadows KL, Newman JL, Taft LF, Scott E, Leslie M, et al. Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet [Internet]. 2002 jul [consulta 2017 mar 8];110(3):226-33. doi: 10.1002/ajmg.10427

https://doi.org/10.1002/ajmg.10427

Song F, Barton P, Sleightholme V, Yao G, Fry-Smith A. Screening for fragile X syndrome: a literature review and modelling study. Health Technol Assess [Internet]. 2003 [consulta 2017 mar 11];7(16):1-106. doi: 10.3310/hta7160

https://doi.org/10.3310/hta7160

Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn [Internet]. 2000 ago [consulta 2017 mar 7];20(8):611-4. doi: 10.1002/1097-0223(200008)20:8<611::AID-PD881>3.0.CO;2-M

https://doi.org/10.1002/1097-0223(200008)20:8<611::AID-PD881>3.0.CO;2-M

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, et al. Incidence of Fragile X syndrome in Ireland. Am J Med Genet A [Internet]. 2017 mar [consulta 2017 feb 18];173(3):678-83. doi: 10.1002/ajmg.a.38081

https://doi.org/10.1002/ajmg.a.38081

Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, et al. Fragile X syndrome detection in newborns-pilot study. Genet Med [Internet]. 2008 oct [consulta 2017 feb 21];10(10):714-9. doi: 10.1097/GIM.0b013e3181862a76

Levesque S, Dombrowski C, Morel ML, Rehel R, Cote JS, Bussieres J, et al. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clin Genet [Internet]. 2009 dic [consulta 2017 feb 21];76(6):511-23. doi: 10.1111/j.1399-0004.2009.01237.x

https://doi.org/10.1111/j.1399-0004.2009.01237.x

Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, et al. Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel. Am J Hum Genet [Internet]. 2001 ago [consulta 2017 feb 9];69(2):351-60.

https://doi.org/10.1086/321974

Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests. Prenat Diagn [Internet]. 2007 nov [consulta 2017 mar 9];27(11):991-4.

https://doi.org/10.1002/pd.1815

Chapter 6

Poletta FA, Orioli IM, Castilla EE. Genealogical data in population medical genetics: Field guidelines. Genet Mol Biol [Internet]. 2014 mar [consulta 2014 ago 16];37(1 Supl):171-85. doi: 10.1590/S1415-47572014000200004

https://doi.org/10.1590/S1415-47572014000200004

Castilla EE, Schuler-Faccini L. From rumors to genetic isolates. Genet Mol Biol [Internet]. 2014 mar [consulta 2014 ago 31];37(1 Supl):186-93. doi: 10.1590/S1415-47572014000200005

https://doi.org/10.1590/S1415-47572014000200005

Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet. 1985;69(4):289-99.

https://doi.org/10.1007/BF00291644

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Fragile X syndrome. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, et al. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord [Internet]. 2014 [consulta 2014 ago 31];6(1):24. doi: 10.1038/gim.2012.34

Payan C, Saldarriaga W, Isaza C, Alzate A. Estudio de foco endemico de retardo ental en Ricaurte Valle. En: XI premio Aventis-Academia Nacional de Medicina a la Investigacion Medica. Bogota: Academia Nacional de Medicina; 2000. p. 12-20.

Firth HV, Hurst JA, Hall JG. Oxford desk reference: clinical genetics. Oxford: Oxford University Press; 2005. 708 p.

Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson: Genetica en medicina. 8va. ed. Barcelona: Elsevier; 2016.

Sherman SL, Turner G, Robinson H, Laing S. Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women. Am J Med Genet [Internet]. 1988 may-jun [consulta 2014 sep 7];30(1-2):633-9. doi: 10.1002/ajmg.1320300164

https://doi.org/10.1002/ajmg.1320300164

Lopez-Bedoya LM, Ayala-Rodriguez GI. Levantamiento historico corregimiento de Ricaurte municipio de Bolivar. Colombia: Universidad Tecnologica de Pereira; 1997.

Bailliet G, Castilla EE, Adams JP, Orioli IM, Martinez-Marignac VL, Richard SM, et al. Correlation between molecular and conventional genealogies in Aicuna: a rural population from Northwestern Argentina. Hum Hered [Internet]. 2001 [consulta 2014 sep 3];51(3):150-9. doi: 10.1159/000053336

https://doi.org/10.1159/000053336

Carvajal-Carmona LG, Soto ID, Pineda N, Ortiz-Barrientos D, Duque C, Ospina-Duque J, et al. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet [Internet]. 2000 nov [consulta 2014 sep 7];67(5):1287-95. doi: 10.1016/S0002-9297(07)62956-5

https://doi.org/10.1016/S0002-9297(07)62956-5

Bedoya G, Montoya P, Garcia J, Soto I, Bourgeois S, Carvajal L, et al. Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate. Proc Natl Acad Sci U S A [Internet]. 2006 may [consulta 2014 sep 12];103(19):7234-9. 10.1073/pnas.0508716103

https://doi.org/10.1073/pnas.0508716103

Lalli MA, Cox HC, Arcila ML, Cadavid L, Moreno S, Garcia G, et al. Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease. Alzheimers Dement [Internet]. 2014 oct [consulta 2014 sep 14];10(5 Supl):S277-S283.e10. doi: 10.1016/j.jalz.2013.09.005

https://doi.org/10.1016/j.jalz.2013.09.005

Chapter 7

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Fragile X syndrome. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Tolmie J. The molecular Biology. En: Hagerman RJ, Hagerman PJ, editores. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3ra.ed. Baltimore: The Johns Hopkins University Press. 2002. p. 110-135.

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet [Internet]. 2009 oct [consulta 2014 ago 28];85(4):503-14. doi: 10.1016/j.ajhg.2009.09.007

https://doi.org/10.1016/j.ajhg.2009.09.007

https://doi.org/10.1007/978-3-319-33898-9_13

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, et al. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord [Internet]. 2014 dic 30 [consulta 2017 mar 8];6(1):24. doi: 10.1186/1866-1955-6-24

https://doi.org/10.1186/1866-1955-6-24

Pirozzi F, Tabolacci E, Neri G. The FRAXopathies: Definition, overview, and update. Am J Med Genet A [Internet]. 2011 ago [consulta 2017 mar 12];155A(8):1803-16. doi: 10.1002/ajmg.a.34113

https://doi.org/10.1002/ajmg.a.34113

Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn [Internet]. 2009 jul [consulta 2014 ago 31];11(4):306-10. doi: 10.2353/jmoldx.2009.080174

https://doi.org/10.2353/jmoldx.2009.080174

Fraser FC. Genetic counseling. Am J Hum Genet. 1974 sep;26(5):636-59.

Faher S, Tolosa E, Marin C. Clinical rating scale for tremor. En: Jankovic J, Tolosa E. Parkinson's Disease and Movement Disorders. Baltimore: Urban & Schwarzenberg; 1988. p. 225-34.

Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology [Internet]. 2006 jun [consulta 2014 sep 11];66(11):1717-20. doi: 10.1212/01.wnl.0000219042.60538.92

https://doi.org/10.1212/01.wnl.0000219042.60538.92

Grigsby J, Brega AG, Bennett RE, Bourgeois JA, Seritan AL, Goodrich GK, et al. Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning. Clin Neuropsychol [Internet]. 2016 ago 17 [consulta 2017 mar 8];30(6):944-59. doi: 10.1080/13854046.2016.1185100

https://doi.org/10.1080/13854046.2016.1185100

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A. Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors. J Genet Couns [Internet]. 2012 dic [consulta 2014 sep 13];21(6):752-60. doi: 10.1007/s10897-012-9524-8

https://doi.org/10.1007/s10897-012-9524-8

Qin Y, Jiao X, Simpson JL, Chen ZJ. Genetics of primary ovarian insufficiency: New developments and opportunities. Hum Reprod Update [Internet]. 2015 nov [consulta 2014 sep 13];21(6):787-808. doi: 10.1093/humupd/dmv036

https://doi.org/10.1093/humupd/dmv036

Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet [Internet]. 2003 feb [consulta 2014 ago 28];72(2):454-64. doi: 10.1086/367713

https://doi.org/10.1086/367713

Jakala P, Hanninen T, Ryynanen M, Laakso M, Partanen K, Mannermaa A, et al. Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes. J Clin Invest [Internet]. 1997 jul [consulta 2014 ago 29];100(2):331-8. doi: 10.1172/JCI119538

https://doi.org/10.1172/JCI119538

Hagerman RJ. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J Dev Behav Pediatr [Internet]. 2006 feb [consulta 2014 ago 21];27(1):63-74. doi: 10.1097/00004703-200602000-00012

https://doi.org/10.1097/00004703-200602000-00012

Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol [Internet]. 2013 ago [consulta 2014 ago 21];12(8):786-98. doi: 10.1016/S1474-4422(13)70125-X

https://doi.org/10.1016/S1474-4422(13)70125-X

Leehey MA. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med [Internet]. 2009 dic [consulta 2014 sep 16];57(8):830-6. doi: 10.2310/JIM.0b013e3181af59c4

https://doi.org/10.2310/JIM.0b013e3181af59c4

Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome -features, mechanisms and management. Nat Rev Neurol [Internet]. 2016 jun 24 [consulta 2017 mar 8];12(7):403-12. doi: 10.1038/nrneurol.2016.82

https://doi.org/10.1038/nrneurol.2016.82

Hagerman PJ, Hagerman RJ. The Fragile-X Premutation: A Maturing Perspective. Am J Hum Genet [Internet]. 2004 may [consulta 2017 sep 18];74(5):805-16. doi: 10.1086/386296

https://doi.org/10.1086/386296

O'Dwyer JP, Clabby C, Crown J, Barton DE, Hutchinson M. Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. Neurology [Internet]. 2005 jul 26 [consulta 2017 mar 8];65(2):331-2. doi: 10.1212/01.wnl.0000168865.36352.53

https://doi.org/10.1212/01.wnl.0000168865.36352.53

Muzar Z, Adams PE, Schneider A, Hagerman RJ, Lozano R. Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases. Intractable Rare Dis Res [Internet]; 2014 nov [consulta 2017 mar 8];3(4):162-5. doi: 10.5582/irdr.2014.01023

https://doi.org/10.5582/irdr.2014.01023

Crane AL, Abdel Rasoul G, Ismail AA, Hendy O, Bonner MR, Lasarev MR, et al. Longitudinal assessment of chlorpyrifos exposure and effect biomarkers in adolescent Egyptian agricultural workers. J Expo Sci Environ Epidemiol [Internet]; 2013 jul [consulta 2017 mar 10];23(4):356-62. doi: 10.1038/jes.2012.113

https://doi.org/10.1038/jes.2012.113

Freire C, Koifman S. Pesticides, depression and suicide: A systematic review of the epidemiological evidence. Int J Hyg Environ Health [Internet]; 2013 jul [consulta 2017 mar 15];216(4):445-60. doi: 10.1016/j.ijheh.2012.12.003

https://doi.org/10.1016/j.ijheh.2012.12.003

Zhang X, Wu M, Yao H, Yang Y, Cui M, Tu Z, et al. Pesticide poisoning and neurobehavioral function among farm workers in Jiangsu, People's Republic of China. Cortex [Internet]. 2015 sep [consulta 2017 mar 10];74:396-404. doi: 10.1016/j.cortex.2015.09.006

https://doi.org/10.1016/j.cortex.2015.09.006

Rohlman DS, Anger WK, Lein PJ. Correlating neurobehavioral performance with biomarkers of organophosphorous pesticide exposure. Neurotoxicology [Internet]. 2011 mar [consulta 2017 mar 11];32(2):268-76. doi: 10.1016/j.neuro. 2010.12.008

https://doi.org/10.1016/j.neuro.2010.12.008

Howard A, Bucelli R, Jett D, Bruun D, Yang D, Lein P. Chlorpyrifos exerts opposing effects on axonal and dendritic growth in primary neuronal cultures. Toxicol Appl Pharmacol [Internet]. 2005 sep [consulta 2017 mar 11];207(2):112-24.doi: 10.1016/j.taap.2004.12.008

https://doi.org/10.1016/j.taap.2004.12.008

Yang D, Howard A, Bruun D, Ajua-Alemanj M, Pickart C, Lein PJ. Chlorpyrifos and chlorpyrifos-oxon inhibit axonal growth by interfering with the morphogenic activity of acetylcholinesterase. Toxicol Appl Pharmacol [Internet]. 2008 abr [consulta 2017 mar 11];228(1):32-41. doi: 10.1016/j.taap.2007.11.005

https://doi.org/10.1016/j.taap.2007.11.005

Yang D, Lauridsen H, Buels K, Chi LH, La Du J, Bruun DA, et al. Chlorpyrifos- oxon disrupts zebrafish axonal growth and motor behavior. Toxicol Sci [Internet]. 2011 may [consulta 2017 abr 1];121(1):146-59. doi: 10.1093/toxsci/kfr028

https://doi.org/10.1093/toxsci/kfr028

Hernandez CM, Beck WD, Naughton SX, Poddar I, Adam B-L, Yanasak N, etal. Repeated exposure to chlorpyrifos leads to prolonged impairments of axo nal transport in the living rodent brain. Neurotoxicology [Internet]. 2015 mar [consulta 2017 abr 1];47:17-26. doi: 10.1016/j.neuro.2015.01.002

https://doi.org/10.1016/j.neuro.2015.01.002

Salama M, El-Morsy D, El-Gamal M, Shabka O, Mohamed WM. Mitochondrial complex I inhibition as a possible mechanism of chlorpyrifos induced neurotoxicity. Ann Neurosci [Internet]. 2014 [consulta 2017 abr 4];21(3):85-9. doi: 10.5214/ans.0972.7531.210303

https://doi.org/10.5214/ans.0972.7531.210303

Middlemore-Risher M-L, Adam B-L, Lambert NA, Terry A V. Effects of chlorpyrifos and chlorpyrifos-oxon on the dynamics and movement of mitocondria in rat cortical neurons. J Pharmacol Exp Ther [Internet]. 2011 nov [consulta 2017 abr 1];339(2):341-9. doi: 10.1124/jpet.111.184762

Caughlan A, Newhouse K, Namgung U, Xia Z. Chlorpyrifos induces apoptosis in rat cortical neurons that is regulated by a balance between p38 and ERK/JNK MAP kinases. Toxicol Sci [Internet]. 2004 mar [consulta 2017 abr 4];78(1):125-34. doi: 10.1093/toxsci/kfh038

https://doi.org/10.1093/toxsci/kfh038

Morisseau C, Merzlikin O, Lin A, He G, Feng W, Padilla I, et al. Toxicology in the fast lane: application of high-throughput bioassays to detect modulation of key enzymes and receptors. Environ Health Perspect [Internet]. 2009 dic [consulta 2017 abr 5];117(12):1867-72. doi: 10.1289/ehp.0900834

Pessah IN, Cherednichenko G, Lein PJ. Minding the calcium store: Ryanodine receptor activation as a convergent mechanism of PCB toxicity. Pharmacol Ther [Internet]. 2010 feb [consulta 2017 abr 5];125(2):260-85. doi: 10.1016/j. pharmthera.2009.10.009

Welt CK, Smith PC, Taylor AE. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab [Internet]. 2004 sep [consulta 2017 abr 9];89(9):4569-74. doi: 10.1210/jc.2004-0347

https://doi.org/10.1210/jc.2004-0347

Sherman S, Allen EG, Jesica S. Clinical manifestation and management of FXPOI. En: Tassone F, Hall DA, editores. FXTAS, FXPOI, and Other Premutation Disorde rs. 2da. ed. Switzerland: Springer; 2016. p. 199-224.

https://doi.org/10.1007/978-3-319-33898-9_10

Kniffin CL. OMIM Entry - # 300624 - Fragile X Mental Retardation Syndrome [Internet]. 2006 sep [consulta 2014 ago 31]. Disponible en : http://www.omim. org/entry/300624

Dixit H, Rao L, Padmalatha V, Raseswari T, Kapu AK, Panda B, et al. Genes governing premature ovarian failure. Reprod Biomed Online [Internet]. 2010 jun [consulta 2015 ene 26];20(6):724-40. doi: 10.1016/j.rbmo.2010.02.018

https://doi.org/10.1016/j.rbmo.2010.02.018

https://doi.org/10.1016/j.gene.2015.06.039

Platteau P, Sermon K, Seneca S, Van Steirteghem A, Devroey P, Liebaers I. Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible. um Reprod [Internet]. 2002 nov [consulta 2015 feb 5];17(11):2807-12. doi: 10.1093/humrep/17.11.2807

https://doi.org/10.1093/humrep/17.11.2807

https://doi.org/10.1371/journal.pgen.1001240

Chapter 8

Poletta FA, Orioli IM, Castilla EE. Genealogical data in population medical genetics: Field guidelines. Genet Mol Biol. 2014;37(1):171-85.

https://doi.org/10.1590/S1415-47572014000200004

L S-F, E C. From rumors to genetic isolates. Genet Mol Biol. 2014;37(1):186-93.

https://doi.org/10.1590/S1415-47572014000200005

Hunter J, Rivero-arias O, Angelov A, Kim E, Fotheringham I, Leal J, et al. Epidemiology of Fragile X Syndrome : A Systematic Review and Meta-Analysis. 2014;1648-58.

https://doi.org/10.1002/ajmg.a.36511

Tassone F, Iong KP, Tong T-H, Lo J, Gane LW, Berry-Kravis E, et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012;4(12):100.

https://doi.org/10.1186/gm401

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85(4):503-14.

https://doi.org/10.1016/j.ajhg.2009.09.007

Crawford DC, Meadows KL, Newman JL, Taft LF, Scott E, Leslie M, et al. Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet. 2002 Jul;110(3):226-33.

https://doi.org/10.1002/ajmg.10427

Song F, Barton P, Sleightholme V, Yao G, Fry-Smith A. Screening for fragile X syndrome: a literature review and modelling study HTA Health Technology Assessment NHS R&D HTA Programme Executive summary Screening for fragile X syndrome. Health Technol Assess (Rockv). 2003;7(16).

https://doi.org/10.3310/hta7160

Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn. 2000 Aug;20(8):611-4.

https://doi.org/10.1002/1097-0223(200008)20:8<611::AID-PD881>3.0.CO;2-M

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. 2014 Jul;164A(7):1648-58.

https://doi.org/10.1002/ajmg.a.36511

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, et al. Incidence of Fragile X syndrome in Ireland. Am J Med Genet A. 2017 Mar;173(3):678-83.

https://doi.org/10.1002/ajmg.a.38081

Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, et al. Fragile X syndrome detection in newborns-pilot study.

https://doi.org/10.2353/jmoldx.2009.080173

LAcvesque S, Dombrowski C, Morel M-L, Rehel R, CA'tAc J-S, BussiA¨res J, et al. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mothers newborn pairs from the general population. Clin Genet. 2009 Dec;76(6):511-23.

https://doi.org/10.1111/j.1399-0004.2009.01237.x

Tzeng C-C, Tsai L-P, Hwu W-L, Lin S-J, Chao M-C, Jong Y-J, et al. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. Am J Med Genet A. 2005 Feb;133A(1):37-43.

https://doi.org/10.1002/ajmg.a.30528

https://doi.org/10.1086/321974

Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests. Prenat Diagn. 2007 Nov;27(11):991-4.

https://doi.org/10.1002/pd.1815

Gardeazabal Alvarez G. El divino. Bogota: Plaza & Janes; 1986. 233 p.

Payan C, Saldarriaga W, Isaza C, Alzate A. Estudio focoendemico de retardo mental en Ricaurte Valle. In: XI premio Aventis - Academia Nacional de Medicina a la investigacionmedica. 2000. p. 12-20.

Lopez L, Ayala G. Levantamiento historico corregimiento de Ricaurte, municipio de Bolivar. Universidad Tecnologica de Pereira; 1997.

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala- Zapata S, Hagerman R. Fragile X syndrome. Colomb medica (Cali, Colomb. 45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada M, et al. Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). J Neurodev Disord. 2014;6(1):26.

https://doi.org/10.1186/1866-1955-6-26

Castilla EE, Schuler-Faccini L. From rumors to genetic isolates. Genet Mol Biol. 2014 Mar;37(1 Suppl):186-93.

https://doi.org/10.1590/S1415-47572014000200005

https://doi.org/10.1007/978-3-319-33898-9_10

Saldarriaga W, Ramirez-Cheyne J, Rodriguez-Guerrero T, Fandino-Losada A. Sindrome de Tremor Ataxia y Falla Ovarica Prematura en portadora de la premutacion del gen FMR1. Colomb Medica Rev. 2017;

Saldarriaga W, Lein P, Gonzalez Teshima LY, Isaza C, Rosa L, Polyak A, et al. Phenobarbital use and neurological problems in FMR1 premutation carriers. Neurotoxicology. 2016 Mar;53:141-7.

https://doi.org/10.1016/j.neuro.2016.01.008

Bailey DB, Raspa M, Olmsted M, Holiday DB. Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am J Med Genet Part A. 2008;146A(16):2060-9.

https://doi.org/10.1002/ajmg.a.32439

https://doi.org/10.1080/13854046.2016.1185100

Salcedo-Arellano MJ, Lozano R, Tassone F, Hagerman RJ, Saldarriaga W. Alcohol use dependence in fragile X syndrome. Intractable rare Dis Res. 2016 Aug;5(3):207-13.

https://doi.org/10.5582/irdr.2016.01046

Saldarriaga W, Ruiz FA, Tassone F, Hagerman R. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report. J Appl Res Intellect Disabil. 2016 Jul.

https://doi.org/10.1111/jar.12272

Carátula libro Fragile X syndrome in Ricaurte, Colombia

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2018-11-01

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Fragile X syndrome in Ricaurte, Colombia

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