Neurodevelopmental (Fragile X syndrome) and neurodegenerative (tremor/ataxia syndrome) disorders associated to the 'growth' of a gene;Trastornos del neurodesarrollo (síndrome X frágil) y neurodegenerativos (síndrome de temblor/ataxia) asociados al 'crecimiento' de un gen

Revista de Neurologia

Volumn 40, Issue 7, 2005, Pages 431-437

  Castro Volio, Isabel ^a   Cuenca Berger, P ^a  

^a UNIVERSIDAD DE COSTA RICA   (Costa Rica)

Author keywords

Aged; Ataxia; Brain; Fragile X syndrome; Mutation instability; Tremor

Indexed keywords

ATAXIA; DEGENERATIVE DISEASE; DIAGNOSTIC TEST; FRAGILE X SYNDROME; GENE MUTATION; GENETIC DISORDER; HUMAN; INCIDENCE; MENTAL DEFICIENCY; NERVE CELL DIFFERENTIATION; PHENOTYPE; POLYMERASE CHAIN REACTION; REVIEW; TREMOR; TRINUCLEOTIDE REPEAT; BRAIN; COGNITIVE DEFECT; GENE FREQUENCY; GENETICS; MEMORY DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; POINT MUTATION; SHORT TERM MEMORY;

FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN; NERVE PROTEIN; RNA BINDING PROTEIN;

ATAXIA; BRAIN; COGNITION DISORDERS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE FREQUENCY; HUMANS; MAGNETIC RESONANCE IMAGING; MEMORY DISORDERS; MEMORY, SHORT-TERM; NERVE TISSUE PROTEINS; NEURODEGENERATIVE DISEASES; PHENOTYPE; POINT MUTATION; RNA-BINDING PROTEINS; TREMOR; TRINUCLEOTIDE REPEATS;

EID: 20844459317     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4007.2004283     Document Type: Review

References (46)

1. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127-30.
2. Hagerman RJ, Hagerman PJ. Fragile X syndrome: a model of gene-brain-behaviour relationships. Mol Genet Metab 2001; 74: 89-97.
3. Saul RA, Tarleton JC. Fragile X syndrome. In GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics (database online). Copyright, University of Washington, Seattle. URL: http://www.geneclinics.org.
4. Verkerk AJM, 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 1991; 65: 905-14.
5. Eichler EE, Richards S, Gibbs RA, Nelson DL. Fine structure of the human FMR1 gene. Hum Mol Genet 1993; 2: 1147-53.
6. Maddalena A, Richards C, McGinniss MJ, Brothman AR, Desnick RJ, Grier RE, et al. American College of Medical Genetics: Technical standards and guidelines for fragile X. Genet Med 2001; 3: 200-5.
7. Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996; 64: 196-7.
8. Hagerman R. Clinical and diagnostic aspects of fragile X syndrome. In Wells R, Warren ST, Sarmiento M, eds. Genetic instabilities and hereditary neurological diseases. New York: Academic Press; 1998. p. 15-25.
9. Imbert G, Feng Y, Nelson DL, Warren ST. Mandel. 1998. FMR1 and mutations in fragile X syndrome: molecular biology, biochemistry, and genetics. In Wells R, Warren ST, Sarmiento M, eds. Genetic instabilities and hereditary neurological diseases. New York: Academic Press; 1998. p. 27-54.
10. Wöhrle D, Salat U, Gläser D, Mücke J, Meisel-Stosiek M, Schindler D, et al. Unusual apparent mutations in high functioning fragile X males: instability of expanded unmethylated CGG repeats. J Med Genet 1998; 35: 103-11.
11. Lachiewicz AM, Spiridigliozzi GA, McConkie-Rossell A, Burhess D, Feng Y, Warren ST, et al. A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no-methylation at the EagI site of the FMR-1 gene. Am J Hum Genet 1996; 64: 278-82.
12. Battaglia P, de Fanti E, Grimau-Merino R, Giardina L, Schiavon R. Laboratory findings in a male with suspected X-fragile syndrome. Discovery of mosaicism of normal and methylated FMR-1 genes. Eur J Hum Genet 2001; 9 (Supl 1): 172.
13. Oberlé I, Rosseau F, Heitz D, Kretz C, Deveys D, Hanauer A. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-102.
14. Fu YH, Kuhl DPA, Pizutti A, Pieretti M, Sutcliffe JS, Richards S, et al. Variation of the CGG repeat al the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-58.
15. Yu S, Pritchard M, Kremer E, Lynch M, Nancarraw J, Baker E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991; 252: 1179-81.
16. Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, et al. Length of uninterrupted CGG repeats determines stability in the FMR1 gene. Nature Genet 1994; 8: 88-94.
17. Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Am J Hum Genet 1995; 56: 1042-51.
18. Jin P, Warren ST. Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 2000; 9: 901-8.
19. Zalfa F, Bagni C. Molecular insights into mental retardation: multiple functions for the fragile X mental retardation protein? Curr Issues Mol Biol 2004; 6: 73-88.
20. Siomi H, Ishizuka A, Siomi MC. RNA interference: a new mechanism by which FMRP acts in the normal brain? What can Drosophila teach us? Ment Retard Dev Disabil Res Rev 2004; 10: 68-74.
21. Downward J. Science, medicine and the future. RNA interference. BMJ 2004; 328: 1245-8.
22. Castro I, Cuenca P. Frecuencia del síndrome del cromosoma X frágil en la Escuela de Enseñanza Especial Fernando Centeno Güell. Acta Pediátrica Costarricense 1996; 10: 99-106.
23. Reiss AL, Dant CC. The behavioural neurogenetics of fragile X syndrome: analysing gene-brain-behaviour relationships in child developmental psychopathologies. Dev Psychopathol 2003; 15: 927-68.
24. Ferrando-Lucas MT, Banús-Gómez P, López-Pérez G. Aspectos cognitivos en niñas con síndrome X frágil. Rev Neurol 2004; 38 (Supl 1): S53-7.
25. Morton JE, Bundey S, Webb TP, MacDonald F, Rindl PM, Bullock S. Fragile X syndrome is less common than previously estimated. J Med Genet 1997; 34: 1-5.
26. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of permutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995; 57: 1006-18.
27. Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, MacPherson JN, et al. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am J Hum Genet 1997; 60: 103-12.
28. Turner G, Robinson H, Wake S, Laing S, Partington M. Case finding for the fragile syndrome and its consequences. Br Med J 1997; 315: 1223-6.
29. Sutherland GR, Gedeon A, Korman L, Donnelly A, Byard RW, Mulley JC, et al. Prenatal diagnosis of fragile X syndrome by direct detection of unstable DNA sequence. N Engl J Med 1991; 325: 1720-2.
30. Spiridigliozzi GA, Lachiewicz M, MacMurdo CS, Vizoso AD, O'Donnel CM, McConkie-Rossel A, et al. Educating boys with fragile X syndrome. A guide for parents and professionals. Durham: Duke University Medical Center; 1994. p. 1-20.
31. Hagerman RJ. Medical follow-up and pharmacotherapy. In Hagerman RJ, Cronister A, eds. Fragile X syndrome diagnosis, treatment and research. Baltimore: John Hopkins; 1996. p. 3-250.
32. Braden M. Fragile, handle with care. Understanding fragile X syndrome. Chapel Hill: Avanta; 1996.
33. Castro I, Cuenca P. Tamizaje de sitio frágil en el cromosoma X en una población de retardados mentales. Hallazgos preliminares. Revista Médica del Hospital Nacional de Niños (Costa Rica) 1987; 1: 11-4.
34. Cuenca-Berger P, Morales-Montero F, Castro-Volio I. Diagnóstico directo de la mutación que causa el síndrome del cromosoma X frágil. Experiencia en Costa Rica. Acta Med Costarric 2002; 44: 27-33.
35. Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002; 11: 371-8.
36. Sherman SL. Premature ovarian failure in the fragile x syndrome. Am J Med Genet 2000; 97: 189-94.
37. Hagerman PJ, Hagerman RJ. The fragile X premutation: a maturing perspective. Am J Hum Genet 2004; 74: 805-16.
38. Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002; 125: 1760-71.
39. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003; 72: 869-78.
40. Leehey MA, Hagerman RJ, Landau WM, Grigsby J, Tassone F, Hagerman PJ. Tremor/ataxia syndrome in fragile X carrier males. Mov Disord 2002; 17: 744-5.
41. Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman R, Hagerman P, et al. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol 2003; 53: 616-23.
42. Leehey MA, Munhoz RP, Lang AE, Brunberg JA, Grigsby J, Greco C, et al. The fragile X premutation presenting as essential tremor. Arch Neurol 2003; 60: 117-21.
43. Hagerman PJ, Greco CM, Hagerman RJ. A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res 2003; 100: 206-12.
44. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004; 291: 460-9.
45. Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004; 74: 1051-6.
46. Tassone F, Hagerman PJ. Expression of the FMR1 gene. Cytogenet Genome Res 2003; 100: 124-8.