Parkinson disease is not associated with C9ORF72 repeat expansions

Matthew B. Harms, Drexel Neumann, Bruno A. Benitez, Breanna Cooper, David Carrell, Brad A. Racette, Joel S. Perlmutter, Alison Goate, Carlos Cruchaga

Research output: Contribution to journalArticle

32 Scopus citations

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.

Original languageEnglish
Pages (from-to)1519.e1-1519.e2
JournalNeurobiology of Aging
Volume34
Issue number5
DOIs
StatePublished - May 2013

Keywords

  • C9ORF72
  • Genetics
  • Hexanucleotide repeat
  • Parkinson disease

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