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

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 F...

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Bibliographic Details
Published in:Genetics and molecular research 2008-01, Vol.7 (1), p.74-84
Main Authors: Reis, A H O, Ferreira, A C S, Gomes, K B, Aguiar, M J B, Fonseca, C G, Cardoso, F E, Pardini, V C, Carvalho, M R S
Format: Article
Language:English
Subjects:
Alleles
Ataxia - diagnosis
Ataxia - genetics
Ataxia - pathology
Ataxia - physiopathology
Case-Control Studies
Fragile X Mental Retardation Protein - genetics
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Parkinson Disease - diagnosis
Parkinson Disease - genetics
Parkinson Disease - pathology
Parkinson Disease - physiopathology
Tremor - diagnosis
Tremor - genetics
Tremor - pathology
Tremor - physiopathology
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Summary: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.
ISSN:1676-5680
1676-5680
DOI:10.4238/vol7-1gmr357