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June 2, 2026Annals of Indian Academy of Neurology0 citationsOpen Access

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

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VTVijyeta TapariaUttarakhand Open UniversityTCTanushree ChawlaMedanta The MedicityCGChanchal GoyalIndian Council of Medical Research

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.

Abstract

Abstract 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.

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Cite This Study

Taparia et al. (2026) studied this question.

synapsesocial.com/papers/6a1e72cb30b38c64201b60e0https://doi.org/10.4103/aian.aian_281_26
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