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Accepted (AM)Open Access (License Unspecified), Open
Journal article
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
Neurobiology of aging, v 33(12), pp 2950.e5-2950.e7
Dec 2012
PMID: 22840558
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
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Details
- Title
- Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
- Creators
- Nicola J. Rutherford - Mayo ClinicMichael G. Heckman - Mayo ClinicMariely DeJesus-Hernandez - Mayo ClinicMatt C. Baker - Mayo ClinicAlexandra I. Soto-Ortolaza - Mayo ClinicSruti Rayaprolu - Mayo ClinicHeather Stewart - University of British ColumbiaElizabeth Finger - Western UniversityKathryn Volkening - Western UniversityWilliam W. Seeley - University of California, San FranciscoKimmo J. Hatanpaa - The University of Texas Southwestern Medical CenterCatherine Lomen-Hoerth - University of California, San FranciscoAndrew Kertesz - Western UniversityEileen H. Bigio - Northwestern UniversityCarol Lippa - Drexel UniversityDavid S. Knopman - Mayo Clinic Rochester, MNHans A. Kretzschmar - Ludwig-Maximilians-Universität MünchenManuela Neumann - University of ZurichRichard J. Caselli - Mayo Clinic, Scottsdale AZ.Charles L. White - The University of Texas Southwestern Medical CenterIan R. Mackenzie - University of British ColumbiaRonald C. Petersen - Mayo Clinic Rochester, MNMichael J. Strong - Western UniversityBruce L. Miller - University of California, San FranciscoBradley F. Boeve - Mayo Clinic Rochester, MNRyan J. Uitti - Mayo ClinicKevin B. Boylan - Mayo ClinicZbigniew K. Wszolek - Mayo ClinicNeill R. Graff-Radford - Mayo ClinicDennis W. Dickson - Mayo ClinicOwen A. Ross - Mayo ClinicRosa Rademakers - Mayo Clinic
- Publication Details
- Neurobiology of aging, v 33(12), pp 2950.e5-2950.e7
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000310200000029
- Scopus ID
- 2-s2.0-84866760281
- Other Identifier
- 991019312441004721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Geriatrics & Gerontology
- Neurosciences