Format

Send to:

Choose Destination
See comment in PubMed Commons below
Genet Mol Res. 2008 Jan 29;7(1):74-84.

Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.

Author information

  • 1Departamento de Biologia Geral, Instituto de Ci√™ncias Biol√≥gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.

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.

PMID:
18273822
[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Fundacao de Pesquisas Cientificas de Ribeirao Preto
    Loading ...
    Write to the Help Desk