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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Parkinson disease is not associated with C9ORF72 repeat expansions
Neurobiology of Aging, Volume 34, No. 5, Year 2013
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Description
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. © 2013 Elsevier Inc.
Authors & Co-Authors
Harms, Matthew B.
United States, St. Louis
Washington University School of Medicine in St. Louis
Benítez, Bruno A.
United States, St. Louis
Washington University School of Medicine in St. Louis
Carrell, David S.
United States, St. Louis
Washington University School of Medicine in St. Louis
Racette, Brad A.
United States, St. Louis
Washington University School of Medicine in St. Louis
Perlmutter, Joel S.
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, St. Louis
Washington University School of Medicine in St. Louis, Mallinckrodt Institute of Radiology
Cruchaga, Carlos
United States, St. Louis
Washington University School of Medicine in St. Louis
Statistics
Citations: 36
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1016/j.neurobiolaging.2012.10.001
ISSN:
01974580
Research Areas
Genetics And Genomics
Mental Health
Study Design
Cohort Study