期刊
NEUROBIOLOGY OF AGING
卷 34, 期 5, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2012.10.001
关键词
Parkinson disease; Genetics; C9ORF72; Hexanucleotide repeat
资金
- National Institutes of Health [P30-NS069329-01, K08-NS075094, RO1NS41509, RO1NS075321, P30 NS057105, UL1 TR000448]
- American Parkinson Disease Association (APDA) Advanced Research Center for Parkinson Disease at Washington University in St. Louis
- Barnes Jewish Hospital Foundation
- Greater St. Louis Chapter of the APDA
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. (C) 2013 Elsevier Inc. All rights reserved.
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