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
Review
. 2013 Aug;36(8):450-9.
doi: 10.1016/j.tins.2013.04.010. Epub 2013 Jun 7.

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

Marc Cruts  1 , Ilse Gijselinck, Tim Van Langenhove, Julie van der Zee, Christine Van Broeckhoven
Affiliations
Review

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

Marc Cruts et al. Trends Neurosci. 2013 Aug.

Abstract

An expanded G4C2 hexanucleotide repeat in the proximal regulatory region of C9orf72 is a frequent cause of neurodegenerative diseases in the frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) spectrum. Although primarily characterized by variably abundant pathological inclusions of TDP-43 protein, the lesion load was extended to TDP-43-negative, p62-positive neuronal and glial inclusions in extended regions of the central nervous system (CNS), particularly in cerebellum, where they may be characteristic of a C9orf72 repeat expansion. Disease mechanisms associated with repeat expansion disorders, including haploinsufficiency, RNA toxicity, and abnormal translation of expanded repeat sequences, are beginning to emerge. We review genetic, clinical, and pathological highlights and discuss current insights into the biology of this novel type of repeat expansion disease.

Keywords: C9orf72; TDP43-proteinopathy; amyotrophic lateral sclerosis; frontotemporal lobar degeneration; neurodegeneration; repeat expansion diseases.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources