Screening for C9ORF72 repeat expansion in FTLD

Raffaele Ferrari, Kin Mok, Jorge H. Moreno, Stephanie Cosentino, Jill Goldman, Pietro Pietrini, Richard Mayeux, Michael C. Tierney, Dimitrios Kapogiannis, Gregory A. Jicha, Jill R. Murrell, Bernardino Ghetti, Eric M. Wassermann, Jordan Grafman, John Hardy, Edward D. Huey, Parastoo Momeni*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


In the present study we aimed to determine the prevalence of . C9ORF72 GGGGCC hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-frontotemporal dementia (FTD) and 2 FTD-amyotrophic lateral sclerosis [ALS]) out of 53 patients and 1 neurologically normal control. Interestingly, 2 of the . C9ORF72 expansion carriers also carried 2 novel missense mutations in . GRN (Y294C) and in . PSEN-2(I146V). Further, 1 of the . C9ORF72 expansion carriers, for whom pathology was available, showed amyloid plaques and tangles in addition to TAR (trans-activation response) DNA-binding protein (TDP)-43 pathology. In summary, our findings suggest that the hexanucleotide expansion is probably associated with ALS, FTD, or FTD-ALS and occasional comorbid conditions such as Alzheimer's disease. These findings are novel and need to be cautiously interpreted and most importantly replicated in larger numbers of samples.

Original languageEnglish (US)
Pages (from-to)1850.e1-1850.e11
JournalNeurobiology of Aging
Issue number8
StatePublished - Aug 2012


  • Alzheimer's disease
  • Bv-FTD
  • C9ORF72
  • FTLD
  • GRN
  • PSEN-2

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

Fingerprint Dive into the research topics of 'Screening for C9ORF72 repeat expansion in FTLD'. Together they form a unique fingerprint.

Cite this