Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

Abstract

Not every gene nominated as a cause of human disease stands the test of time. As additional data become available, the evidence supporting the pathogenicity of a particular variant within a gene can be enhanced or diminished.1 The amyotrophic lateral sclerosis (ALS) field, as much as any other, has been hesitant to address these controversies, leading to uncertainty among the research community.