Parkinson disease is not associated with C9ORF72 repeat expansions
Document Type
Article
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.
Medical Subject Headings
Adult; Aged; Aged, 80 and over; C9orf72 Protein; 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
Publication Date
5-1-2013
Publication Title
Neurobiology of aging
E-ISSN
1558-1497
Volume
34
Issue
5
First Page
1519.e1
Last Page
2
PubMed ID
23116878
Digital Object Identifier (DOI)
10.1016/j.neurobiolaging.2012.10.001
Recommended Citation
Harms, Matthew B.; Neumann, Drexel; Benitez, Bruno A.; Cooper, Breanna; Carrell, David; Racette, Brad A.; Perlmutter, Joel S.; Goate, Alison; and Cruchaga, Carlos, "Parkinson disease is not associated with C9ORF72 repeat expansions" (2013). Neurology. 1157.
https://scholar.barrowneuro.org/neurology/1157