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Publication Detail
Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB
  • Publication date:
  • Pagination:
    1223.e1, 1223.e2
  • Journal:
    Neurobiol Aging
  • Volume:
  • Issue:
  • Status:
  • Country:
    United States
  • PII:
  • Language:
  • Keywords:
    Amyotrophic lateral sclerosis, C9orf72, Fronto-temporal dementia, Multiple system atrophy, Neurodegeneration, C9orf72 Protein, Cohort Studies, DNA Repeat Expansion, Genetic Testing, Humans, Multiple System Atrophy, Proteins
Multiple system atrophy (MSA) is a fatal neurodegenerative disorder of unknown etiology that presents with variable combinations of progressive ataxia, parkinsonism, and autonomic instability. Pathologic expansion of a hexanucleotide repeat in the C9orf72 gene has been demonstrated to cause neurodegeneration with diverse neurologic presentations. To test the hypothesis whether pathologic expansions in C9orf72 are a cause of MSA, we undertook genetic screening in 100 neuropathologically confirmed cases. No pathologic repeat expansions were detected suggesting that MSA is not a C9orf72-related neurodegenerative disease.
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Clinical and Movement Neurosciences
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