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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
M A Leehey
1 ,
E Berry-Kravis ,
C G Goetz ,
L Zhang ,
D A Hall ,
L Li ,
C D Rice ,
R Lara ,
J Cogswell ,
A Reynolds ,
L Gane ,
S Jacquemont ,
F Tassone ,
J Grigsby ,
R J Hagerman ,
P J Hagerman
Apr 15 2008
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Abstract
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 mental retardation and autism. This study determines whether CGG repeat length correlates with severity and type of motor dysfunction in premutation carriers.