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

BMC Neurol. 2023 Jun 1;23(1):211. doi: 10.1186/s12883-023-03202-w.

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 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.

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.

Keywords: COA7; Charcot-Marie-Tooth disease; Parkinsonism; Spinocerebellar ataxia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease* / genetics
  • Humans
  • Middle Aged
  • Mutation
  • Parkinsonian Disorders* / complications
  • Parkinsonian Disorders* / diagnostic imaging
  • Parkinsonian Disorders* / genetics
  • Spinocerebellar Ataxias* / complications
  • Spinocerebellar Ataxias* / diagnostic imaging
  • Spinocerebellar Ataxias* / genetics

Substances

  • Iodine-123