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
. 2012 Apr 10;8(5):249-50.
doi: 10.1038/nrneurol.2012.58.

Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS

Eileen H Bigio

Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS

Eileen H Bigio. Nat Rev Neurol. .

Abstract

Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.

PubMed Disclaimer

References

    1. DeJesus-Hernandez M, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–256. - PMC - PubMed
    1. Renton AE, et al. A nexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS–FTD. Neuron. 2011;71:257–268. - PMC - PubMed
    1. Simon-Sanchez J, et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. http://dx.doi.org/10.1093/brain/awr353. - DOI - PubMed
    1. Snowden JS, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain. http://dx.doi.org/10.1093/brain/awr355. - DOI - PMC - PubMed
    1. Mackenzie IR, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 2006;112:539–549. - PMC - PubMed

MeSH terms