A Rare Case of Spinocerebellar Ataxia 50: The First Reported Case from the Indian Subcontinent with a Review of the Literature.

Spinocerebellar ataxia (SCA)-50 is a recently reported rare subtype. We describe the first case of SCA-50 from the Indian subcontinent. A 22-year-old man presented with progressive cerebellar ataxia over 2 years, along with oculomotor abnormalities and imaging findings indicating mild cerebellar atrophy. Genetic testing revealed an NPTX1 gene mutation, which correlates with SCA-50. Its unique pathogenesis distinguishes it from other SCA subtypes.