Tremor

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

A. H. O. Reis, Ferreira, A. C. S., Gomes, K. B., Aguiar, M. J. B., Fonseca, C. G., Cardoso, F. E., Pardini, V. C., and Carvalho, M. R. S., Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism, vol. 7, pp. 74-84, 2008.

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.

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