The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.

ABSTRACT: The discovery that a hexanucleotide repeat expansion in C9orf72 is the most numerous genetic variant of both amyotrophic lateral sclerosis and frontotemporal dementia has opened a rapidly growing field, which may provide long hoped for advances in the understanding and treatment of these devastating diseases. In this review we describe the various phenotypes, clinical and pathological, associated with expansion of C9orf72, which go beyond amyotrophic lateral sclerosis and frontotemporal dementia to include neurodegeneration more broadly. Next we take a step back and summarize the current understanding of the C9orf72 expansion and its protein products at a molecular level. Three mechanisms are prominent: toxicity mediated directly by RNA transcribed from the repeat; toxicity mediated by dip

SUBMITTER: Cooper-Knock J 

PROVIDER: S-EPMC4404438 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature