Article
Phenotype variability in spinocerebellar ataxia type 2: a longitudinal family survey and a case featuring an unusual benign course of disease.
Movement disorders : official journal of the Movement Disorder Society - 15 Apr 2009
Hering Sascha, Achmüller Clemens, Köhler Andrea, Poewe Werner, Schneider Raine, Boesch Sylvia M
Abstract excerpt
We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of...
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