A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72 (C9orf72) gene is linked to multiple neurological conditions. Rothstein and colleagues evaluate the evidence indicating that the NRE causes a loss of C9orf72 function or drives toxic gain-of-function mechanisms and consider the cellular defects through which the mutation drives disease pathology.
- Aaron R. Haeusler
- Christopher J. Donnelly
- Jeffrey D. Rothstein
