Article
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.
Genes, brain, and behavior - 1 Jul 2012
Tassone F, Greco C M, Hunsaker M R, Seritan A L, Berman R F, Gane L W, Jacquemont S, Basuta K, Jin L-W, Hagerman P J, Hagerman R J
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical...
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