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

Key Points

• To report the first case of spinocerebellar ataxia 50 in the Indian subcontinent and explore its genetic basis.
• Described a clinical case of a 22-year-old man with progressive cerebellar ataxia over 2 years.
• Conducted genetic testing to identify mutations correlating with spinocerebellar ataxia 50.
• Reviewed literature on spinocerebellar ataxia subtypes and their pathogenesis.
• Identified an NPTX1 gene mutation linked to spinocerebellar ataxia 50.
• Documented clinical symptoms included progressive cerebellar ataxia and oculomotor abnormalities.
• Imaging revealed mild cerebellar atrophy associated with the condition.