Please use this identifier to cite or link to this item:
Title: C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients
Author: Dobson-Stone, Carol
Hallupp, Marianne
Loy, Clement T.
Thompson, Elizabeth M.
Haan, Eric
Sue, Carolyn M.
Panegyres, Peter K.
Razquin, Cristina
Seijo Martínez, Manuel
Reñé Ramírez, Ramon
Gascón-Bayarri, Jordi
Campdelacreu i Fumadó, Jaume
Schmoll, Birgit
Volk, Alexander E.
Brooks, William S.
Schofield, Peter R.
Pastor, Pau
Kwok, John B. J.
Keywords: Demència
Esclerosi lateral amiotròfica
Amyotrophic lateral sclerosis
Issue Date: 20-Feb-2013
Publisher: Public Library of Science (PLoS)
Abstract: A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in 'non-expansion' patients (those with <30 repeats). The C9ORF72 repeat expansion was detected in 5-17% of patients (21-41% of familial FTD patients). For one family, the expansion was present in the proband but absent in the mother, who was diagnosed with dementia at age 68. No association was found between C9ORF72 non-expanded allele length and age of onset and in the Spanish sample mean allele length was shorter in cases than in controls. Southern blotting analysis revealed that one of the nine 'expansion-positive' patients examined, who had neuropathologically confirmed frontotemporal lobar degeneration with TDP-43 pathology, harboured an 'intermediate' allele with a mean size of only similar to 65 repeats. Our study indicates that the C9ORF72 repeat expansion accounts for a significant proportion of Australian and Spanish FTD cases. However, C9ORF72 allele length does not influence the age at onset of 'non-expansion' FTD patients in the series examined. Expansion of the C9ORF72 allele to as little as similar to 65 repeats may be sufficient to cause disease.
Note: Reproducció del document publicat a:
It is part of: PLoS One, 2013, vol. 8, num. 2, p. e56899
Related resource:
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Files in This Item:
File Description SizeFormat 
Dobson-StoneC.pdf204.48 kBAdobe PDFView/Open

This item is licensed under a Creative Commons License Creative Commons