Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred
Sara Sáez-Atiénzar, 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
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.
Topics & Concepts
Amyotrophic lateral sclerosisPathogenicityIdentification (biology)GeneticsMutationGeneBiologyDiseaseMedicineInternal medicineBotanyMicrobiologyAmyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchPrion Diseases and Protein Misfolding