Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.
The concept of a pathological overlap between neurodegenerative disorders is gaining momentum. We sought to determine the contribution of C9orf72 repeat expansions, recently discovered as a cause of frontotemporal dementia and amyotrophic lateral sclerosis, in a large number of Parkinson's disease patients. No large expansions were identified in our cohort.
Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Elisa.Majounie@nih.gov
Elisa
E
Majounie
Yevgeniya
Y
Abramzon
Alan E
AE
Renton
Margaux F
MF
Keller
Bryan J
BJ
Traynor
Andrew B
AB
Singleton
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000073885:C9orf72 Protein; D002648:Child; D015331:Cohort Studies; D042622:DNA Repeat Expansion / Q000235:genetics*; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins