Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism
Genet. mol. res. (Online)
;
7(1): 74-84, Jan. 2008. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-553773
ABSTRACT
A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group. In the patient group, no premutation carrier was found, which is in agreement with other observed frequencies reported elsewhere (0-5% variation). No significant differences were found when comparing gray zone allele frequencies among target and control groups. The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Doença de Parkinson
/
Ataxia
/
Tremor
/
Proteína do X Frágil da Deficiência Intelectual
/
Frequência do Gene
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Genet. mol. res. (Online)
Assunto da revista:
Biologia Molecular
/
Genética
Ano de publicação:
2008
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Instituto Hermes Pardini/BR
/
Universidade Federal de Minas Gerais/BR
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