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Neurobiol Aging. 2013 May;34(5):1519.e1-2. doi: 10.1016/j.neurobiolaging.2012.10.001. Epub 2012 Oct 30.

Parkinson disease is not associated with C9ORF72 repeat expansions.

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  • 1Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA.


Hexanucleotide expansions in the C9ORF72 gene are frequently found in patients with amyotrophic lateral sclerosis, frontotemporal dementia or both, some of whom exhibit concurrent extrapyramidal symptoms. To determine if repeat expansions are a cause of Parkinson's disease (PD), we used repeat-primed polymerase chain reaction to investigate the frequency of C9ORF72 repeat expansions in a cohort of 478 patients with PD and 662 control subjects. Three control subjects were found to be expansion carriers, and no expansions were found among patients, suggesting that C9ORF72 expansions are not a common cause of PD.

Copyright © 2013 Elsevier Inc. All rights reserved.

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