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Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin.

Neurogenetics - 1 Oct 2024

De Tiyasha, Sharma Pooja, Upilli Bharathram, Vivekanand A, Bari Shreya, Sonakar Akhilesh Kumar, Srivastava Achal Kumar, Faruq Mohammed

Abstract excerpt

BACKGROUND: The ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic disorders. Spinocerebellar ataxia type 27B (SCA27B), a recently identified dominantly inherited cerebellar disorder is caused by GAA-repeat expansions in intron 1 of Fibroblast Growth Factor 14 (FGF14). Predominantly reported in the European population, we aimed to screen this...

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PMID: 38976084
DOI: 10.1007/s10048-024-00770-y

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