eprintid: 2910
rev_number: 7
eprint_status: archive
userid: 69
dir: disk0/00/00/29/10
datestamp: 2015-11-17 11:42:10
lastmod: 2017-03-27 12:43:14
status_changed: 2015-11-17 11:42:10
type: article
metadata_visibility: show
creators_name: Ferrari, Raffaele
creators_name: Mok, Kin
creators_name: Moreno, Jorge H.
creators_name: Cosentino, Stephanie
creators_name: Goldman, Jill
creators_name: Pietrini, Pietro
creators_name: Mayeux, Richard
creators_name: Tierney, Michael C.
creators_name: Kapogiannis, Dimitrios
creators_name: Jicha, Gregory A.
creators_name: Murrell, Jill R.
creators_name: Ghetti, Bernardino
creators_name: Wassermann, Eric M.
creators_name: Grafman, Jordan
creators_name: Hardy, John
creators_name: Huey, Edward D.
creators_name: Momeni, Parastoo
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: pietro.pietrini@imtlucca.it
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
creators_id: 
title: Screening for C9ORF72 repeat expansion in FTLD
ispublished: pub
subjects: RC0321
divisions: CSA
full_text_status: public
keywords: FTLD, bv-FTD, FTD-ALS, C9ORF72, GRN, PSEN-2, Alzheimer's disease
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.
date: 2012
date_type: published
publication: Neurobiology of Aging
volume: 33
number: 8
publisher: Elsevier
pagerange: 1850.e1 - 1850.e11
id_number: 10.1016/j.neurobiolaging.2012.02.017
refereed: TRUE
issn: 0197-4580
official_url: http://www.sciencedirect.com/science/article/pii/S0197458012001625
citation:   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)  
document_url: http://eprints.imtlucca.it/2910/1/nihms-419635.pdf