@article{b4c52fc077d74d86ac6bd6239a181eaa,
title = "Parkinson disease is not associated with C9ORF72 repeat expansions",
abstract = "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.",
keywords = "C9ORF72, Genetics, Hexanucleotide repeat, Parkinson disease",
author = "Harms, {Matthew B.} and Drexel Neumann and Benitez, {Bruno A.} and Breanna Cooper and David Carrell and Racette, {Brad A.} and Perlmutter, {Joel S.} and Alison Goate and Carlos Cruchaga",
note = "Funding Information: This work was supported by grants from the National Institutes of Health ( P30-NS069329-01 , and K08-NS075094 ) RO1NS41509, RO1NS075321, P30 NS057105, UL1 TR000448; the American Parkinson Disease Association (APDA) Advanced Research Center for Parkinson Disease at Washington University in St. Louis; the Greater St. Louis Chapter of the APDA; the Barnes Jewish Hospital Foundation (Elliot Stein Family Fund and Parkinson Disease Research Fund). We thank contributors, including the Movement Disorder Clinic in Washington University in Saint Louis and the Washington University Neuromuscular Genetics Project who collected samples used in this study, and patients and their families, whose help and participation made this work possible. ",
year = "2013",
month = may,
doi = "10.1016/j.neurobiolaging.2012.10.001",
language = "English",
volume = "34",
pages = "1519.e1--1519.e2",
journal = "Neurobiology of Aging",
issn = "0197-4580",
number = "5",
}