Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

Nicola J. Rutherford, Michael G. Heckman, Mariely DeJesus-Hernandez, Matt C. Baker, Alexandra I. Soto-Ortolaza, Sruti Rayaprolu, Heather Stewart, Elizabeth Finger, Kathryn Volkening, William W. Seeley, Kimmo J. Hatanpaa, Catherine Lomen-Hoerth, Andrew Kertesz, Eileen H. Bigio, Carol Lippa, David S. Knopman, Hans A. Kretzschmar, Manuela Neumann, Richard J. Caselli, Charles L. WhiteIan R. Mackenzie, Ronald C. Petersen, Michael J. Strong, Bruce L. Miller, Bradley F. Boeve, Ryan J. Uitti, Kevin B. Boylan, Zbigniew K. Wszolek, Neill R. Graff-Radford, Dennis W. Dickson, Owen A. Ross, Rosa Rademakers

Research output: Contribution to journalArticlepeer-review

68 Scopus citations


Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repeat in C9ORF72 plays a role in the presentation of disease or affects age at onset in C9ORF72 mutation carriers. We also studied whether the GGGGCC repeat length confers risk or affects age at onset in FTD and ALS patients without C9ORF72 repeat expansions. C9ORF72 genotyping was performed in 580 FTD, 995 ALS, and 160 FTD-ALS patients, and 1444 controls, leading to the identification of 211 patients with pathogenic C9ORF72 repeat expansions. No meaningful association between the repeat length of the normal alleles of the GGGGCC repeat in C9ORF72 and disease phenotype or age at onset was observed in C9ORF72 mutation carriers or nonmutation carriers.

Original languageEnglish (US)
Pages (from-to)2950.e5-2950.e7
JournalNeurobiology of aging
Issue number12
StatePublished - Dec 2012


  • Amyotrophic lateral sclerosis
  • Association study
  • C9ORF72
  • Frontotemporal dementia
  • Repeat-expansion disease

ASJC Scopus subject areas

  • General Neuroscience
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology


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