학술논문
FMR1CGG repeat length predicts motor dysfunction in premutation carriersSYMBOL
Document Type
Article
Author
Source
Neurology (Ovid); April 2008, Vol. 70 Issue: 16 p1397-1402, 6p
Subject
Language
ISSN
00283878; 1526632X
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.