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Article

Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.

Journal of human genetics - 1 Dec 2023

Phulpagar Prashant, Holla Vikram V, Tomar Deepti, Kamble Nitish, Yadav Ravi, Pal Pramod Kumar, Muthusamy Babylakshmi

Abstract excerpt

Spinocerebellar ataxia, autosomal recessive-17 (SCAR17) is a rare hereditary ataxia characterized by ataxic gait, cerebellar signs and occasionally accompanied by intellectual disability and seizures. Pathogenic mutations in the CWF19L1 gene that code for CWF19 like cell cycle control factor 1 cause SCAR17. We report here two unrelated families with the clinical characteristics of global developmental delay,...

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PMID: 37752213
DOI: 10.1038/s10038-023-01195-5

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