{Reference Type}: Case Reports
{Title}: Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.
{Author}: Ouchi S;Ishii K;Kosaki K;Suzuki H;Yamada M;Takenouchi T;Tamaoka A;
{Journal}: BMC Neurol
{Volume}: 23
{Issue}: 1
{Year}: 2023 Jun 1
{Factor}: 2.903
{DOI}: 10.1186/s12883-023-03202-w
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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 123I-Ioflupane revealed clear hypo-accumulation in the bilateral striatum. However, 123I-metaiodobenzylguanidine myocardial scintigraphy showed normal sympathetic nerve function. Levodopa administration improved parkinsonism in this patient.<BR><B>CONCLUSIONS: </B>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.