Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2012 Dec;33(12):2950.e5-7.
doi: 10.1016/j.neurobiolaging.2012.07.005. Epub 2012 Jul 26.

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

Nicola J Rutherford  1 , Michael G Heckman, Mariely Dejesus-Hernandez, Matt C Baker, Alexandra I Soto-Ortolaza, Sruti Rayaprolu, Heather Stewart, Elizabeth Finger, Kathryn Volkening, William W Seeley, Kimmo J Hatanpaa, Catherine Lomen-Hoerth, Andrew Kertesz, Eileen H Bigio, Carol Lippa, David S Knopman, Hans A Kretzschmar, Manuela Neumann, Richard J Caselli, Charles L White 3rd, Ian R Mackenzie, Ronald C Petersen, Michael J Strong, Bruce L Miller, Bradley F Boeve, Ryan J Uitti, Kevin B Boylan, Zbigniew K Wszolek, Neill R Graff-Radford, Dennis W Dickson, Owen A Ross, Rosa Rademakers
Affiliations
Multicenter Study

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

Nicola J Rutherford et al. Neurobiol Aging. 2012 Dec.

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.

PubMed Disclaimer

References

    1. Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet. 2012 - PubMed
    1. Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR, Jr., Parisi JE, Lucas JA, Petersen RC, Rademakers R. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012;135(Pt 3):765–783. - PMC - PubMed
    1. Boillee S, Vande Velde C, Cleveland DW. ALS: a disease of motor neurons and their nonneuronal neighbors. Neuron. 2006;52(1):39–59. - PubMed
    1. Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GY, Rutherford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, Dearmond S, Miller BL, Rademakers R. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry. 2011;82(2):196–203. - PMC - PubMed
    1. Cerami C, Scarpini E, Cappa SF, Galimberti D. Frontotemporal lobar degeneration: current knowledge and future challenges. J Neurol. 2012 - PubMed

Publication types

LinkOut - more resources