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Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

4 Apr 2023

Abstract excerpt

Background: gene. Objectives: To assess frequency, clinical and genetic features of SCA36 in Eastern Spain. Methods: expansion was tested in a cohort of undiagnosed cerebellar ataxia families (n = 84). Clinical characterization and haplotype studies were performed. Results: SCA36 was identified in 37 individuals from 16 unrelated families. It represented 5.4% of hereditary ataxia patients. The majority were...

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PMID: 37332636
DOI: 10.1002/mdc3.13740

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