FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

Neurology

Volumn 64, Issue 1, 2005, Pages 145-147

  Brussino, A ^a   Gellera, C ^b   Saluto, A ^a   Mariotti, C ^b   Arduino, C ^a   Castellotti, B ^b   Camerlingo, M ^c   De Angelis, V ^d   Orsi, L ^a   Tosca, P ^e   Migone, N ^a   Taroni, F ^b   Brusco, A ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c Presidio Ospedaliero di San Giovanni Bianco   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; AGED; ARTICLE; CEREBELLAR ATAXIA; CONTROLLED STUDY; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; NEUROPATHOLOGY; ONSET AGE; PRIORITY JOURNAL;

EID: 19944425949     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000148723.37489.3F     Document Type: Article

References (10)

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2. Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002;12:278-283.
3. Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. Premutation and intermediate-size FMR1 alleles in 10572 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;11:371-378.
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9. Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004;291:460-469.
10. Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor/ ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004;74:1051-1056.