Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation.
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.
Nirenberg
Melissa J
MJ
Division of Movement Disorders, Department of Neurology, Weill Cornell Medical College, New York, New York 10021, USA. mjnirenb@med.cornell.edu
Libien
Jenny
J
Vonsattel
Jean-Paul
JP
Fahn
Stanley
S
D000483:Alleles; D000067699:Ataxin-3; D001344:Autopsy; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology; D042622:DNA Repeat Expansion / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000150:complications*; D009186:Myelin Sheath / Q000473:pathology; D009410:Nerve Degeneration / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009457:Neuroglia / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011699:Putamen / Q000378:metabolism / Q000473:pathology; D012097:Repressor Proteins / Q000235:genetics*; D012720:Severity of Illness Index; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000235:genetics*; D051844:alpha-Synuclein / Q000235:genetics
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D051844:alpha-Synuclein; C092341:ATXN3 protein, human; D000067699:Ataxin-3