title: Investigation of C9orf72 repeat expansions in Parkinson's disease.
abstract: Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Given some of the clinical and pathologic overlap between these 2 diseases and Parkinson's disease, we sought to evaluate the presence of these expansions in a cohort of French-Canadian patients with Parkinson's disease. No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease.
authors.affiliation: Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada.
authors.forename: Hussein
authors.initials: H
authors.lastname: Daoud
authors.forename: Anne
authors.initials: A
authors.lastname: Noreau
authors.forename: Daniel
authors.initials: D
authors.lastname: Rochefort
authors.forename: Gabriel
authors.initials: G
authors.lastname: Paquin-Lanthier
authors.forename: Maude Turcotte
authors.initials: MT
authors.lastname: Gauthier
authors.forename: Pierre
authors.initials: P
authors.lastname: Provencher
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Pourcher
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
authors.forename: Sylvain
authors.initials: S
authors.lastname: Chouinard
authors.forename: Nicolas
authors.initials: N
authors.lastname: Jodoin
authors.forename: Valérie
authors.initials: V
authors.lastname: Soland
authors.forename: Edward A
authors.initials: EA
authors.lastname: Fon
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000073885:C9orf72 Protein; D002170:Canada / Q000453:epidemiology; D015331:Cohort Studies; D042622:DNA Repeat Expansion / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins