relation: http://eprints.imtlucca.it/2910/
title: Screening for C9ORF72 repeat expansion in FTLD
creator: Ferrari, Raffaele
creator: Mok, Kin
creator: Moreno, Jorge H.
creator: Cosentino, Stephanie
creator: Goldman, Jill
creator: Pietrini, Pietro
creator: Mayeux, Richard
creator: Tierney, Michael C.
creator: Kapogiannis, Dimitrios
creator: Jicha, Gregory A.
creator: Murrell, Jill R.
creator: Ghetti, Bernardino
creator: Wassermann, Eric M.
creator: Grafman, Jordan
creator: Hardy, John
creator: Huey, Edward D.
creator: Momeni, Parastoo
subject: RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
description: 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.
publisher: Elsevier
date: 2012
type: Article
type: PeerReviewed
format: application/pdf
language: en
identifier: http://eprints.imtlucca.it/2910/1/nihms-419635.pdf
identifier:   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)  
relation: http://www.sciencedirect.com/science/article/pii/S0197458012001625
relation: 10.1016/j.neurobiolaging.2012.02.017