Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

doi:10.1093/brain/awy104

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Article

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Brain : a journal of neurology - 1 Jun 2018

Higuchi Yujiro, Okunushi Ryuta, Hara Taichi, Hashiguchi Akihiro, Yuan Junhui, Yoshimura Akiko, Murayama Kei, Ohtake Akira, Ando Masahiro, Hiramatsu Yu, Ishihara Satoshi, Tanabe Hajime, Okamoto Yuji, Matsuura Eiji, Ueda Takehiro, Toda Tatsushi, Yamashita Sumimasa, Yamada Kenichiro, Koide Takashi, Yaguchi Hiroaki, Mitsui Jun, Ishiura Hiroyuki, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Sato Ken, Nakagawa Masanori, Yamaguchi Masamitsu, Tsuji Shoji, Takashima Hiroshi

Abstract excerpt

Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with...

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Identifiers

PMID: 29718187
DOI: 10.1093/brain/awy104
PMCID: PMC5972596

Genes

COA7

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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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