Article
Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2026
Melo Caroline Fernandes, de Vasconcelos Laura Toledo, Evangelista Lays Aparecida Bono
Abstract excerpt
We report a 41-year-old man of African descent from the Northern Minas Gerais/Jequitinhonha Valley region of Brazil - historically characterized by geographic isolation, predominantly Afro-Indigenous ancestry, and structural consanguinity - born to first-degree cousin parents, who presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities. His sister had...
Read the complete abstract on PubMedTopics
- Humans
- Male
- Brazil
- Adult
- Cerebellar Ataxia
- DNA Polymerase gamma