Article
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
Neurology - 15 Apr 2008
Leehey M A, Berry-Kravis E, Goetz C G, Zhang L, Hall D A, Li L, Rice C D, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman R J, Hagerman P J
Abstract excerpt
BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently described, underrecognized neurodegenerative disorder of aging fragile X mental retardation 1 (FMR1) premutation carriers, particularly men. Core motor features are action tremor, gait ataxia, and parkinsonism. Carriers have expanded CGG repeats (55 to 200); larger expansions cause fragile X syndrome, the most common heritable cause of...
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