Title

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

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