Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation

American Journal of Human Genetics

Volumn 74, Issue 5, 2004, Pages 1051-1056

  Hagerman, Randi J ^a   Leavitt, B R ^e   Farzin, F ^a   Jacquemont, S ^a   Greco, C M ^a,b   Brunberg, J A ^a   Tassone, F ^a,c   Hessl, D ^a   Harris, S W ^a   Zhang, L ^a   Jardini, T ^a   Gane, L W ^a   Ferranti, J ^a   Ruiz, L ^a   Leehey, M A ^d   Grigsby, J ^d   Hagerman, P J ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF COLORADO   (United States)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; ASTROCYTE; ATAXIA; AUTOPSY; BRAIN TISSUE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; FMR1 GENE; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; GENE; GENE INACTIVATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INTELLIGENCE QUOTIENT; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; TREMOR;

ATAXIA;

EID: 2342453253     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/420700     Document Type: Article

References (25)

1. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, Holden JJA, Yang KT, Lee C, Hudson RHG, Nolin SL, Glicksman A, Jenkins EC, Brown WT, Howard-Peebles PN, Becchi C, Cummings E, Fallon L, Seitz S, Black SH, Vianna-Morgante AM, Costa SS, Otto PA, Mingroni-Netto RC, Murray A, Webb J, Vieri F (1999) Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study-preliminary data. Am J Med Genet 83:322-325
2. Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman R, Hagerman P, Goetz CG (2003) Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol 53:616-623
3. Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis E, Grigsby J, Leehey M, Tassone F, Brown WT, Greco C, Hagerman PJ (2002) Fragile X premutation carriers: characteristic MR imaging findings in adult males with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 23:1757-1766
4. Franke P, Leboyer M, Gansicke M, Weiffenbach O, Biancalana V, Cornillet-Lefebre P, Croquette MF, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W (1998) Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res 80:113-127
5. Greco C, Hagerman RJ, Tassone F, Chudley A, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760-1771
6. Hagerman P, Iwahashi C, Babineau B, Yasui D, Greco C, Duncan N, Graw S, Kim F, Hagerman R (2003a) Fragile X-associated tremor/ataxia syndrome (FXTAS): a common heritable neuronal inclusion disorder. Neurology 60:A469
7. Hagerman PJ, Greco CM, Hagerman RJ (2003b) A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res 100:206-212
8. Hagerman RJ, Hagerman PJ (2004) Fragile X premutation: a maturing perspective. Am J Hum Genet 74:805-816 (in this issue)
9. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130
10. Jacquemont S, Farzin F, Hall DA, Leehey MA, Tassone F, Gane LW, Zhang L, Grigsby J, Jardini T, Lewin F, Berry-Kravis E, Hagerman PJ, Hagerman RJ (2004a) Aging in individuals with the FMR1 mutation. Am J Ment Retard 109:154-164
11. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878
12. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini, T, Gane LW, Harris SW, Herman K, Grigsby J, Greco C, Berry-Kravis E, Tassone F, Hagerman PJ (2004b) Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population: initial results from a California family-based study. JAMA 291:460-469
13. Jin P, Zamescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, Warren ST (2003) RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39:739-747
14. Leehey MA, Hagerman RJ, Landau WM, Grigsby J, Tassone F, Hagerman PJ (2002) A tremor/ataxia syndrome in fragile X carrier males. Mov Discord 17:744-745;17 suppl 2 (video)
15. Leehey MA, Munhoz RP, Lang AE, Brunberg JA, Grisby J, Greco C, Jacquemont S, Tassone F, Lozano AM, Hagerman PJ, Hagerman RJ (2003) The fragile X premutation presenting as essential tremor. Arch Neurol 60:117-121
16. Murray A, Ennis S, MacSwiney F, Webb J, Morton NE (2000) Reproductive and menstrual history of females with fragile X expansions. Eur J Hum Genet 8:247-252
17. Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H (1993) Neurobehavioral effects of the fragile X premutation in adult women: a controlled study. Am J Hum Genet 52:884-894
18. Riddle JE, Cheema A, Sobesky WE, Gardner SC, Taylor AK, Pennington BF, Hagerman RJ (1998) Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 102:590-601
19. Sobesky WE (1996) The treatment of emotional and behavioral problems. In: Hagerman RJ, Cronister A (eds) Fragile X syndrome: diagnosis, treatment, and research, 2nd ed. Johns Hopkins University Press, Baltimore, pp 332-348
20. Tassone F, Hagerman RJ, Iklé DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK (1999) FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 84:250-261
21. Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ (2000a) Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet 94:232-236
22. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ (2000b) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in fragile-X syndrome. Am J Hum Genet 66:6-15
23. Tassone F, Hagerman RJ, Taylor AK, Hagerman PJ (2001) Fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J Med Genet 38:453-456
24. Tassone F, Orrico A, Galli L, Jacquemont S, Hagerman R, Hagerman P (2002) Spastic parapresis and ataxia in two sisters with the fragile X premutation. Paper presented at the National Fragile X Foundation's Eighth International Fragile X Conference, Chicago, July 17-21
25. Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, Van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA (2003) The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 12:949-959