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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; et al. (Profiled Authors: Bernardino Ghetti; Jill R. Murrell)

Neurobiology of Aging. 2012;33(8):e1-e11.

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. © 2012 .

PMID: 22459598    

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