Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Authors:
Dr.  Sonja Scholz, MD, PhD
Dr. Sonja Scholz, MD, PhD
National Institute of Neurological Disorders and Stroke
Lasker Clinical Research Scholar
Neurology
Bethesda, MD | United States

Neurobiol Aging 2015 Feb 6;36(2):1223.e1-2. Epub 2014 Sep 6.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315721PMC
February 2015
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