FXTAS

Gene expression profiles in the cerebellum of transgenic mice over expressing the human FMR1 gene with CGG repeats in the normal range

J. J. Fernández, Martínez, R., Andújar, E., Pérez-Alegre, M., Costa, A., Bonilla-Henao, V., Sobrino, F., Pintado, C. Ó., and Pintado, E., Gene expression profiles in the cerebellum of transgenic mice over expressing the human FMR1 gene with CGG repeats in the normal range, vol. 11, pp. 467-483, 2012.

Modifications in the GABA pathway are considered to be responsible for motor alterations in animal models for fragile X-associated tremor ataxia syndrome. We analyzed the expression profile in the cerebellum in a transgenic mouse model that over expresses the human FMR1 gene with CGG repeats in the normal range. We used the “GeneChip Mouse Gene 1.0 ST Array” from Affymetrix analyzing 28,853 well-described and -characterized genes.

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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