FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.
Neurology
; 64(1): 145-7, 2005 Jan 11.
Article
em En
| MEDLINE
| ID: mdl-15642922
ABSTRACT
In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Proteínas de Ligação a RNA
/
Mutação
/
Proteínas do Tecido Nervoso
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Itália