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

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.

A cerebral phenotype of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids: A case report and review of the literature.

CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) is an inflammatory central nervous system disorder that gives rise to brainstem symptoms such as diplopia and articulatory disorders. It shows characteristic "salt-and-pepper" enhancing brainstem lesions on magnetic resonance imaging (MRI) scans. We present an unusual case of CLIPPERS, in which a 29-year-old man initially presented with a seizure. Brain MRI revealed faint open-ring enhancements in the right frontal lobe, and a brain biopsy was performed to make a definitive diagnosis. Immunohistological tests showed perivascular infiltration by primarily CD3- and CD20-positive cells, albeit including a few CD68-positive cells, which confirmed a diagnosis of CLIPPERS. Both the symptoms and the MRI findings were markedly improved by 3 courses of steroid (methylprednisolone) pulse therapy, followed by oral steroid (prednisolone) administration. This case shows that CLIPPERS can present as a phenotype of cortical lesions and seizures as the first signs. A brain biopsy should therefore be actively carried out for differential diagnosis, especially when other, cortically based inflammatory disorders are suspected.