L. A. Evangelista

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

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 sens...