Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

Mariely DeJesus-Hernandez, Sruti Rayaprolu, Alexandra I. Soto-Ortolaza, Nicola J. Rutherford, Michael G. Heckman, Sharleen Traynor, Audrey Strongosky, Neill Graff-Radford, Jay Van Gerpen, Ryan J. Uitti, Jerry J. Shih, Siong Chi Lin, Zbigniew K. Wszolek, Rosa Rademakers, Owen A. Ross

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


The hexanucleotide expanded repeat (GGGGCC) in intron 1 of the C9orf72 gene is recognized as the most common genetic form of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, as part of the clinical phenotype, some patients present with parkinsonism. The present study investigated the potential expansion or association of the C9orf72 repeat length with susceptibility to Parkinson's disease and related disorders, essential tremor and restless legs syndrome. One restless legs syndrome patient was shown to harbor a repeat expansion, however on clinical follow-up this patient was observed to have developed frontotemporal dementia. There was no evidence of association of repeat length on disease risk or age-at-onset for any of the three disorders. Therefore the C9orf72 hexanucleotide repeat expansion appears to be specific to TDP-43 driven amyotrophic lateral sclerosis and dementia.

Original languageEnglish (US)
Pages (from-to)198-201
Number of pages4
JournalParkinsonism and Related Disorders
Issue number2
StatePublished - Feb 2013


  • C9orf72
  • ET
  • Expanded repeat
  • Genetic association
  • PD
  • RLS

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology


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