@article{6cb9eb0449954db4b915efb71a4d95a9,
title = "Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype",
abstract = "Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repeat in C9ORF72 plays a role in the presentation of disease or affects age at onset in C9ORF72 mutation carriers. We also studied whether the GGGGCC repeat length confers risk or affects age at onset in FTD and ALS patients without C9ORF72 repeat expansions. C9ORF72 genotyping was performed in 580 FTD, 995 ALS, and 160 FTD-ALS patients, and 1444 controls, leading to the identification of 211 patients with pathogenic C9ORF72 repeat expansions. No meaningful association between the repeat length of the normal alleles of the GGGGCC repeat in C9ORF72 and disease phenotype or age at onset was observed in C9ORF72 mutation carriers or nonmutation carriers.",
keywords = "Amyotrophic lateral sclerosis, Association study, C9ORF72, Frontotemporal dementia, Repeat-expansion disease",
author = "Rutherford, {Nicola J.} and Heckman, {Michael G.} and Mariely DeJesus-Hernandez and Baker, {Matt C.} and Soto-Ortolaza, {Alexandra I.} and Sruti Rayaprolu and Heather Stewart and Elizabeth Finger and Kathryn Volkening and Seeley, {William W.} and Hatanpaa, {Kimmo J.} and Catherine Lomen-Hoerth and Andrew Kertesz and Bigio, {Eileen H.} and Carol Lippa and Knopman, {David S.} and Kretzschmar, {Hans A.} and Manuela Neumann and Caselli, {Richard J.} and White, {Charles L.} and Mackenzie, {Ian R.} and Petersen, {Ronald C.} and Strong, {Michael J.} and Miller, {Bruce L.} and Boeve, {Bradley F.} and Uitti, {Ryan J.} and Boylan, {Kevin B.} and Wszolek, {Zbigniew K.} and Graff-Radford, {Neill R.} and Dickson, {Dennis W.} and Ross, {Owen A.} and Rosa Rademakers",
note = "Funding Information: We would like to thank all the patients and their families who took part in this study. ALS samples from the NINDS Human Genetics Resource Center DNA and Cell Line Repository ( ccr.coriell.org/ninds ) were included in this study. This work was supported by the ALS Therapy Alliance, the Consortium for Frontotemporal Dementia (CFR), The Winspear Family Center for Research on the Neuropathology of Alzheimer Disease, the McCune Foundation, NIH grants R01 NS065782 , P50 AG16574 , P50 NS072187-01S2 and R01 AG26251 , the Canadian Institutes of Health Research grants # 179009 and # 74580 , PARF center grant C06-01 and ADC grants NIA P30 AG13854 and P30 AG012300 . ",
year = "2012",
month = dec,
doi = "10.1016/j.neurobiolaging.2012.07.005",
language = "English (US)",
volume = "33",
pages = "2950.e5--2950.e7",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
number = "12",
}