Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy

Apisit Boongird; Pichet Termsarasab; Teeratorn Pulkes

doi:10.1016/j.ensci.2023.100463

Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy

eNeurologicalSci. 2023 Apr 15:31:100463. doi: 10.1016/j.ensci.2023.100463. eCollection 2023 Jun.

Authors

Apisit Boongird¹, Pichet Termsarasab¹, Teeratorn Pulkes¹

Affiliation

¹ Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

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.