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

Research output: Contribution to journalArticlepeer-review

47 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
Pages (from-to)1850.e1-1850.e11
JournalNeurobiology of Aging
Issue number8
StatePublished - Aug 2012

Bibliographical note

Funding Information:
PM molecular genetics work is funded by the office of the Dean of the School of Medicine, department of Internal Medicine, at Texas Tech Health Sciences Center. J.H.'s work on FTD GWAS is supported partly by a grant from Alzheimer's Research UK. This research was supported in part by the Intramural Research Programs of the National Institute on Aging and the National Institute of Neurological Disorders and Stroke. E.D.H.'s work is supported by NIH/NINDS grant 5R00NS060766 . J.G.'s work is supported by the NINDS Intramural Research Program. D.G.'s work was supported by NIH grant PHS P30 AG 10133 . The authors thank Mike Hubank and Kerra Pearce at the Genomic core facility at the Institute of Child Health (ICH), University College London (UCL) for assisting R.F. in performing Illumina genotyping experiments, and Cynthia Crews, Anne Leopold, and Karen DeTucci for the study coordination.


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

ASJC Scopus subject areas

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


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