Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation.

@article{Nirenberg2007MultipleSA,
  title={Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation.},
  author={M J Nirenberg and Jenny M Libien and J. Vonsattel and Stanley Fahn},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2007},
  volume={22 2},
  pages={251-4}
}
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… CONTINUE READING
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