%0 Journal Article
%@ 0197-4580
%A Ferrari, Raffaele
%A Mok, Kin
%A Moreno, Jorge H.
%A Cosentino, Stephanie
%A Goldman, Jill
%A Pietrini, Pietro
%A Mayeux, Richard
%A Tierney, Michael C.
%A Kapogiannis, Dimitrios
%A Jicha, Gregory A.
%A Murrell, Jill R.
%A Ghetti, Bernardino
%A Wassermann, Eric M.
%A Grafman, Jordan
%A Hardy, John
%A Huey, Edward D.
%A Momeni, Parastoo
%D 2012
%F eprints:2910
%I Elsevier
%J Neurobiology of Aging
%K FTLD, bv-FTD, FTD-ALS, C9ORF72, GRN, PSEN-2, Alzheimer's disease
%N 8
%P 1850.e1 - 1850.e11
%T Screening for C9ORF72 repeat expansion in FTLD
%U http://eprints.imtlucca.it/2910/
%V 33
%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.