FXTAS in Spanish patients with ataxia: Support for female FMR1 premutation screening

Molecular Neurobiology

Volumn 35, Issue 3, 2007, Pages 324-328

  Rodriguez Revenga, Laia ^a,b   Gómez Anson, Beatriz ^a,b   Muñoz, Esteban ^a,b   Jiménez, Dolores ^a   Santos, Monica ^a,b   Tintoré, Mar ^c   Martín, Gisela ^d   Brieva, Luis ^e   Milà, Montserrat ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d HOSPITAL VERGE DE LA CINTA   (Spain)

^e HOSPITAL ARNAU DE VILANOVA   (Spain)

Author keywords

Dominant spinocerebellar ataxia; FMR1 premutation; Fragile X associated tremor ataxia syndrome; FXTAS; Genetic screening

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; ALLELE; ARTICLE; ATAXIA; DEMENTIA; FEMALE; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; TREMOR;

EID: 36248992876     PISSN: 08937648     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12035-007-0020-3     Document Type: Article

References (18)

1. Fu YH, Kuhl DP, Pizzuti A et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
2. Pieretti M, Zhang FP, Fu YH et al (1991) Absence of expression of the FMR1 gene in fragile X syndrome. Cell 66:817-822
3. Hagerman RJ, Hagerman PJ (2002) The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 12:278-283
4. Jacquemont S, Hagerman RJ, Leehey MA et al (2004) Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291:460-469
5. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66:6-15
6. Rife M, Badenas C, Mallolas J et al (2003) Incidence of fragile X in 5,000 consecutive newborn males. Genet Test 7:339-343
7. Willemsen R, Anar B, De Diego Otero Yet al (1999) Noninvasive test for fragile X syndrome, using hair root analysis. Am J Hum Genet 65:98-103
8. Hagerman PJ, Hagerman RJ (2004) The fragile-X premutation: a maturing perspective. Am J Hum Genet 74:805-816
9. Mankodi A, Thornton CA (2002) Myotonic syndromes. Curr Opin Neurol 15:545-552
10. Greco CM, Hagerman RJ, Tassone F et al (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760-1771
11. Jacquemont S, Hagerman RJ, Leehey M et al (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878
12. Macpherson J, Waghorn A, Hammans S, Jacobs P (2003) Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum Genet 112:619-620
13. Zuhlke Ch, Budnik A, Gehlken U et al (2004) FMR1 premutation as a rare cause of late onset ataxia - evidence for FXTAS in female carriers. J Neurol 251:1418-1419
14. Brussino A, Gellera C, Saluto A et al (2005) FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 64:145-147
15. Van Esch H, Dom R, Bex D et al (2005) Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet 13:121-123
16. Seixas AI, Maurer MH, Lin M et al (2005) FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am J Med Genet A 136:87-89
17. Van Esch H, Matthijs G, Fryns JP (2005) Should we screen for FMR1 premutations in female subjects presenting with ataxia? Ann Neurol 57:932-933
18. Hagerman RJ, Leavitt BR, Farzin F et al (2004) Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74:1051-1056