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

Sara Saez-Atienzar, Clifton L. Dalgard, Jinhui Ding, Adriano Chiò, Camile Alba, Dan N. Hupalo, Matthew D. Wilkerson, Robert Bowser, Erik P. Pioro, Richard Bedlack, Bryan J. Traynor*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


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.

Original languageEnglish
Pages (from-to)1015-1018
Number of pages4
Issue number22
StatePublished - 1 Dec 2020
Externally publishedYes


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