Document Detail


Parkinson disease is not associated with C9ORF72 repeat expansions.
MedLine Citation:
PMID:  23116878     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-10-30
Journal Detail:
Title:  Neurobiology of aging     Volume:  34     ISSN:  1558-1497     ISO Abbreviation:  Neurobiol. Aging     Publication Date:  2013 May 
Date Detail:
Created Date:  2013-02-11     Completed Date:  2013-08-13     Revised Date:  2014-05-08    
Medline Journal Info:
Nlm Unique ID:  8100437     Medline TA:  Neurobiol Aging     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1519.e1-2     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Aged, 80 and over
DNA Repeat Expansion / genetics*
Female
Genetic Association Studies
Genetic Markers / genetics*
Genetic Predisposition to Disease / epidemiology*,  genetics*
Humans
Male
Middle Aged
Missouri / epidemiology
Parkinson Disease / epidemiology*,  genetics*
Prevalence
Proteins / genetics*
Risk Factors
Grant Support
ID/Acronym/Agency:
K08 NS075094/NS/NINDS NIH HHS; K08-NS075094/NS/NINDS NIH HHS; K24 ES017765/ES/NIEHS NIH HHS; P30 NS057105/NS/NINDS NIH HHS; P30 NS057105/NS/NINDS NIH HHS; P30 NS069329/NS/NINDS NIH HHS; P30-NS069329-01/NS/NINDS NIH HHS; R01 NS041509/NS/NINDS NIH HHS; R01 NS075321/NS/NINDS NIH HHS; R01NS075321/NS/NINDS NIH HHS; R01NS41509/NS/NINDS NIH HHS; UL1 TR000448/TR/NCATS NIH HHS; UL1 TR000448/TR/NCATS NIH HHS
Chemical
Reg. No./Substance:
0/C9orf72 protein, human; 0/Genetic Markers; 0/Proteins
Comments/Corrections

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