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We aim to identify the genetic and phenotypic spectrum of <jats:italic>COA7<\/jats:italic>-related disorders.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We conducted comprehensive genetic analyses on the <jats:italic>COA7<\/jats:italic> gene within a large group of Japanese patients clinically diagnosed with inherited peripheral neuropathy or cerebellar ataxia.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In addition to our original report, which involved four patients until 2018, we identified biallelic variants of the <jats:italic>COA7<\/jats:italic> gene in another three unrelated patients, and the variants were c.17A\u2009&gt;\u2009G (p.D6G), c.115C\u2009&gt;\u2009T (p.R39W), and c.449G\u2009&gt;\u2009A (p.C150Y; novel). Patient 1 presented with an infantile-onset generalized dystonia without cerebellar ataxia. Despite experiencing an initial transient positive response to levodopa and deep brain stimulation, he became bedridden by the age of 19. Patient 2 presented with cerebellar ataxia, neuropathy, as well as parkinsonism, and showed a slight improvement upon levodopa administration. Dopamine transporter SPECT showed decreased uptake in the bilateral putamen in both patients. Patient 3 exhibited severe muscle weakness, respiratory failure, and feeding difficulties. A haplotype analysis of the mutation hotspot in Japan, c.17A\u2009&gt;\u2009G (p.D6G), uncovered a common haplotype block.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p><jats:italic>COA7<\/jats:italic>-related disorders typically encompass a spectrum of conditions characterized by a variety of major (cerebellar ataxia and axonal polyneuropathy) and minor (leukoencephalopathy, dystonia, and parkinsonism) symptoms, but may also display a dystonia-predominant phenotype. We propose that <jats:italic>COA7<\/jats:italic> should be considered as a new causative gene for infancy-onset generalized dystonia, and <jats:italic>COA7<\/jats:italic> gene screening is recommended for patients with unexplained dysfunctions of the central and peripheral nervous systems.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-023-11998-3","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T08:04:04Z","timestamp":1695715444000},"page":"419-430","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum"],"prefix":"10.1007","volume":"271","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5579-4384","authenticated-orcid":false,"given":"Yujiro","family":"Higuchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6187-9042","authenticated-orcid":false,"given":"Masahiro","family":"Ando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumikazu","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3808-7813","authenticated-orcid":false,"given":"Junhui","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6114-998X","authenticated-orcid":false,"given":"Akihiro","family":"Hashiguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1768-3181","authenticated-orcid":false,"given":"Akiko","family":"Yoshimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1217-0870","authenticated-orcid":false,"given":"Yu","family":"Hiramatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4909-7769","authenticated-orcid":false,"given":"Satoshi","family":"Nozuma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9829-4833","authenticated-orcid":false,"given":"Shinobu","family":"Fukumura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Yahikozawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itaru","family":"Toyoshima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2838-6198","authenticated-orcid":false,"given":"Masashiro","family":"Sugawara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8215-8853","authenticated-orcid":false,"given":"Eiji","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0989-6141","authenticated-orcid":false,"given":"Hiroshi","family":"Takashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,9,26]]},"reference":[{"key":"11998_CR1","doi-asserted-by":"publisher","first-page":"1622","DOI":"10.1093\/brain\/awy104","volume":"141","author":"Y Higuchi","year":"2018","unstructured":"Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H (2018) Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. 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