Ferrari, Raffaele and Mok, Kin and Moreno, Jorge H. and Cosentino, Stephanie and Goldman, Jill and Pietrini, Pietro and Mayeux, Richard and Tierney, Michael C. and Kapogiannis, Dimitrios and Jicha, Gregory A. and Murrell, Jill R. and Ghetti, Bernardino and Wassermann, Eric M. and Grafman, Jordan and Hardy, John and Huey, Edward D. and Momeni, Parastoo
Screening for C9ORF72 repeat expansion in FTLD.
Neurobiology of Aging, 33 (8).
1850.e1 - 1850.e11.
ISSN 0197-4580
(2012)
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Abstract
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.
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