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Article

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.

BMC neurology - 1 Jun 2023

Ouchi Shogo, Ishii Kazuhiro, Kosaki Kenjiro, Suzuki Hisato, Yamada Mamiko, Takenouchi Toshiki, Tamaoka Akira

Abstract excerpt

BACKGROUND: Individuals with variants of cytochrome c oxidase assembly factor 7 (COA7), a mitochondrial functional-related gene, exhibit symptoms of spinocerebellar ataxia with axonal neuropathy before the age of 20. However, COA7 variants with parkinsonism or adult-onset type cases have not been described. CASE PRESENTATION: We report the case of a patient who developed cerebellar symptoms and slowly progressive...

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Identifiers

PMID: 37264311
DOI: 10.1186/s12883-023-03202-w
PMCID: PMC10234071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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