Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

doi:10.1016/j.neurobiolaging.2020.07.010

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Article

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Jan 2021

Nakamura Ryoichi, Tohnai Genki, Atsuta Naoki, Nakatochi Masahiro, Hayashi Naoki, Watanabe Hazuki, Yokoi Daichi, Watanabe Hirohisa, Katsuno Masahisa, Izumi Yuishin, Taniguchi Akira, Kanai Kazuaki, Morita Mitsuya, Kano Osamu, Kuwabara Satoshi, Oda Masaya, Abe Koji, Aoki Masashi, Aiba Ikuko, Okamoto Koichi, Mizoguchi Kouichi, Hattori Nobutaka, Nakashima Kenji, Kaji Ryuji, Sobue Gen

Abstract excerpt

Two recent genetic studies reported that loss-of-function mutation of the C-terminal cargo-binding tail domain of the KIF5A gene cause amyotrophic lateral sclerosis (ALS). The aim of this study is to investigate the frequency of KIF5A variants in Japanese patients with sporadic ALS. In total, 807 sporadic ALS patients and 191 normal controls from a multicenter ALS cohort in Japan were included. Whole exome...

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PMID: 32888732
DOI: 10.1016/j.neurobiolaging.2020.07.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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