Article
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.
Journal of medical genetics - 1 Dec 2009
Sévin M, Kutalik Z, Bergman S, Vercelletto M, Renou P, Lamy E, Vingerhoets F J, Di Virgilio G, Boisseau P, Bezieau S, Pasquier L, Rival J-M, Beckmann J S, Damier P, Jacquemont S
Abstract excerpt
BACKGROUND: Male carriers of the FMR1 premutation are at risk of developing the fragile X-associated tremor/ataxia syndrome (FXTAS), a newly recognised and largely under-diagnosed late onset neurodegenerative disorder. Patients affected with FXTAS primarily present with cerebellar ataxia and intention tremor. Cognitive decline has also been associated with the premutation, but the lack of data on its penetrance...
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