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- W4378983607 abstract "Abstract 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 sensory and motor neuropathy in the extremities, similar to Charcot-Marie-Tooth disease, at age 30, followed by parkinsonism at age 58. Exome analysis revealed COA7 missense mutation in homozygotes (NM_023077.2:c.17A > G, NP_075565.2: p.Asp6Gly). Dopamine transporter single-photon emission computed tomography using a 123 I-Ioflupane revealed clear hypo-accumulation in the bilateral striatum. However, 123 I-metaiodobenzylguanidine myocardial scintigraphy showed normal sympathetic nerve function. Levodopa administration improved parkinsonism in this patient. Conclusions COA7 gene variants may have caused parkinsonism in this case because mitochondrial function-related genes, such as parkin and PINK1, are known causative genes in some familial Parkinson’s diseases." @default.
- W4378983607 created "2023-06-02" @default.
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- W4378983607 date "2023-06-01" @default.
- W4378983607 modified "2023-10-18" @default.
- W4378983607 title "Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report" @default.
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- W4378983607 doi "https://doi.org/10.1186/s12883-023-03202-w" @default.
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