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.
CITATION STYLE
Scholz, S. W., Majounie, E., Revesz, T., Holton, J. L., Okun, M. S., Houlden, H., & Singleton, A. B. (2015). Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiology of Aging, 36(2), 1223.e1-1223.e2. https://doi.org/10.1016/j.neurobiolaging.2014.08.033
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