Mutation in C9orf72 changes the boundaries of ALS and FTD.

摘要

In this issue of The Lancet Neurology, Susan Byrne and colleagues report clinical descriptions of patients with mutations in C9orf72, a gene recently identified as being associated with amyotrophic lateral sclerosis (ALS) and dementia. These findings suggest that mutations in C9orf72 could be the most commonly identified cause of familial ALS and frontotemporal dementia (FTD). Just a few years after J-M Charcot's classic depiction of ALS as a pure motor neuron disease with a non-genetic sporadic aetiology, 0 Dornbluth in 1889 and J Hoffman in I8957 described a few families in which ALS occurred with concomitant cognitive and personality changes.