Parkinson disease is not associated with C9ORF72 repeat expansions

• Published in: Neurobiology of aging Vol. 34; no. 5; pp. 1519.e1 - 1519.e2
• Main Authors: Harms, Matthew B., Neumann, Drexel, Benitez, Bruno A., Cooper, Breanna, Carrell, David, Racette, Brad A., Perlmutter, Joel S., Goate, Alison, Cruchaga, Carlos
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.05.2013
• Subjects: Adult; Aged; Aged, 80 and over; Aging; Amyotrophic lateral sclerosis; C9ORF72; C9orf72 Protein; DNA Repeat Expansion - genetics; Extrapyramidal system; Female; Frontotemporal dementia; Genetic Association Studies; Genetic Markers - genetics; Genetic Predisposition to Disease - epidemiology; Genetic Predisposition to Disease - genetics; Genetics; Hexanucleotide repeat; Humans; Internal Medicine; Male; Middle Aged; Missouri - epidemiology; Movement disorders; Nervous system; Neurodegenerative diseases; Neurology; Parkinson disease; Parkinson Disease - epidemiology; Parkinson Disease - genetics; Parkinson's disease; Polymerase chain reaction; Prevalence; Proteins - genetics; Risk Factors; Parkinson disease; Hexanucleotide repeat; Genetics; C9ORF72
• ISSN: 0197-4580; 1558-1497; 1558-1497
• DOI: 10.1016/j.neurobiolaging.2012.10.001

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.