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      FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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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.

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          Author and article information

          Journal
          Neurology
          Neurology
          Ovid Technologies (Wolters Kluwer Health)
          1526-632X
          0028-3878
          Apr 15 2008
          : 70
          : 16 Pt 2
          Affiliations
          [1 ] Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO 80262, USA. maureen.leehey@uchsc.edu
          Article
          01.wnl.0000281692.98200.f5 NIHMS103527
          10.1212/01.wnl.0000281692.98200.f5
          2685188
          18057320
          75620948-c9f2-4809-ae31-e8d93585d4cd

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