%I Elsevier
%V 33
%P 1850.e1 - 1850.e11
%T Screening for C9ORF72 repeat expansion in FTLD
%R 10.1016/j.neurobiolaging.2012.02.017
%N 8
%J Neurobiology of Aging
%A Raffaele Ferrari
%A Kin Mok
%A Jorge H. Moreno
%A Stephanie Cosentino
%A Jill Goldman
%A Pietro Pietrini
%A Richard Mayeux
%A Michael C. Tierney
%A Dimitrios Kapogiannis
%A Gregory A. Jicha
%A Jill R. Murrell
%A Bernardino Ghetti
%A Eric M. Wassermann
%A Jordan Grafman
%A John Hardy
%A Edward D. Huey
%A Parastoo Momeni
%K FTLD, bv-FTD, FTD-ALS, C9ORF72, GRN, PSEN-2, Alzheimer's disease
%L eprints2910
%D 2012
%X 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.