Document Detail

Parkinson disease is not associated with C9ORF72 repeat expansions.
MedLine Citation:
PMID:  23116878     Owner:  NLM     Status:  Publisher    
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.
Matthew B Harms; Drexel Neumann; Bruno A Benitez; Breanna Cooper; David Carrell; Brad A Racette; Joel S Perlmutter; Alison Goate; Carlos Cruchaga
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-29
Journal Detail:
Title:  Neurobiology of aging     Volume:  -     ISSN:  1558-1497     ISO Abbreviation:  Neurobiol. Aging     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-11-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8100437     Medline TA:  Neurobiol Aging     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA.
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