Ferrari, R; Moreno, JH; Momeni, P; Mok, K; Hardy, J; Cosentino, S; ... Ghetti, B; + view all Ferrari, R; Moreno, JH; Momeni, P; Mok, K; Hardy, J; Cosentino, S; Goldman, J; Mayeux, R; Huey, ED; Pietrini, P; Tierney, MC; Kapogiannis, D; Wassermann, EM; Grafman, J; Jicha, GA; Murrell, JR; Ghetti, B; - view fewer (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiology of Aging , 33 (8) 10.1016/j.neurobiolaging.2012.02.017.
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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 .
|Title:||Screening for C9ORF72 repeat expansion in FTLD|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
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