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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation
Melissa J Nirenberg1, Jenny Libien, Jean-Paul Vonsattel
1Division of Movement Disorders, Department of Neurology, Weill Cornell Medical College, New York, New York 10021, USA. mjnirenb@med.cornell.edu
Abstract:
The cerebellar variant of multiple system atrophy (MSA-C) has overlapping clinical features with the hereditary spinocerebellar ataxias (SCAs), but can usually be distinguished on a clinical basis. We describe a patient who developed a sporadic, late-onset, rapidly progressive neurodegenerative disorder consistent with MSA-C. Genetic testing, however, showed an abnormal expansion of one allele of the spinocerebellar ataxia 3 (SCA3) gene. The clinical impression of MSA-C was confirmed by identification of numerous alpha-synuclein-containing glial cytoplasmic inclusions on autopsy. These findings suggest that abnormal expansion of the SCA3 gene may be a risk factor for the development of MSA-C.
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