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Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation
Author(s) -
Nirenberg Melissa J.,
Libien Jenny,
Vonsattel JeanPaul,
Fahn Stanley
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21231
Subject(s) - spinocerebellar ataxia , olivopontocerebellar atrophy , atrophy , ataxia , pathology , mutation , cerebellar ataxia , degenerative disease , gene mutation , genetic testing , trinucleotide repeat expansion , allele , medicine , neuroscience , genetics , biology , gene , disease
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 α‐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. © 2006 Movement Disorder Society
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