Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy.

ABSTRACT: •SCA17 should be included in the differential diagnoses of PMEs.•SCA17 is characterized by cerebellar features, myoclonic epilepsy, cognitive decline, psychiatric features, and chorea.•Subtle clinical signs like chorea can provide additional diagnostic clues to SCA17(HDL4), a Huntington disease phenocopy.

SUBMITTER: Boongird A 

PROVIDER: S-EPMC10160684 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature