title: Parkinson disease is not associated with C9ORF72 repeat expansions.
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.
authors.affiliation: Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
authors.forename: Matthew B
authors.initials: MB
authors.lastname: Harms
authors.forename: Drexel
authors.initials: D
authors.lastname: Neumann
authors.forename: Bruno A
authors.initials: BA
authors.lastname: Benitez
authors.forename: Breanna
authors.initials: B
authors.lastname: Cooper
authors.forename: David
authors.initials: D
authors.lastname: Carrell
authors.forename: Brad A
authors.initials: BA
authors.lastname: Racette
authors.forename: Joel S
authors.initials: JS
authors.lastname: Perlmutter
authors.forename: Alison
authors.initials: A
authors.lastname: Goate
authors.forename: Carlos
authors.initials: C
authors.lastname: Cruchaga
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008923:Missouri / Q000453:epidemiology; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D005819:Genetic Markers; D011506:Proteins