E-ISSN: 1019-5157
ISSN: 2651-5024
Case Report
Sustained Motor Improvement Following Bilateral GPi Deep Brain Stimulation in VPS13A Disease (Chorea-Acanthocytosis)
Ozge Gonul Oner✉ ,
Batu Hergunsel ,
Derya Selcuk Demirelli ,
Ugurcan Ciler ,
Gencer Genc
Neurology, Medeniyet Üniversitesi Göztepe Eğitim ve Araştırma Hastanesi; Department of Neurosurgery, Sisli Etfal Training and Research Hospital
DOI: 10.5137/1019-5149.JTN.50983-26.1
Accepted: 17/07/2026
Article in Press
Corresponding Author:
Ozge Gonul Oner (ozgegonl@gmail.com)
Abstract
Introduction
VPS13A disease (chorea-acanthocytosis, ChAc) is a rare, progressive neurodegenerative disorder caused by loss-of-function variants in the VPS13A gene. Medical therapy is usually symptomatic and often ineffective for hyperkinetic movements. Deep brain stimulation (DBS) has rarely been applied in this condition, with few published cases to date.
Case Presentation
A 33-year-old woman with genetically confirmed VPS13A disease and medically refractory hyperkinesia underwent bilateral globus pallidus internus (GPi) DBS. Preoperative assessment, surgical procedure, postoperative programming, and six-month clinical outcomes are presented.
At six-month follow-up, the Unified Huntingtons Disease Rating Scale (UHDRS) motor score improved by 39.5%, the behavioral score by 82.1%, the functional score increased from 2 to 13 (+550%), and the independence score rose from 20 to 70 (+250%). Self-mutilating oromandibular movements and truncal hyperkinesia markedly subsided, allowing partial recovery of independent ambulation and self-care.
Conclusion
This case highlights that bilateral GPi DBS may provide substantial and sustained improvement in both motor and behavioral domains in VPS13A disease, supporting its role as a safe and effective therapeutic option in medication-refractory cases.
VPS13A disease (chorea-acanthocytosis, ChAc) is a rare, progressive neurodegenerative disorder caused by loss-of-function variants in the VPS13A gene. Medical therapy is usually symptomatic and often ineffective for hyperkinetic movements. Deep brain stimulation (DBS) has rarely been applied in this condition, with few published cases to date.
Case Presentation
A 33-year-old woman with genetically confirmed VPS13A disease and medically refractory hyperkinesia underwent bilateral globus pallidus internus (GPi) DBS. Preoperative assessment, surgical procedure, postoperative programming, and six-month clinical outcomes are presented.
At six-month follow-up, the Unified Huntingtons Disease Rating Scale (UHDRS) motor score improved by 39.5%, the behavioral score by 82.1%, the functional score increased from 2 to 13 (+550%), and the independence score rose from 20 to 70 (+250%). Self-mutilating oromandibular movements and truncal hyperkinesia markedly subsided, allowing partial recovery of independent ambulation and self-care.
Conclusion
This case highlights that bilateral GPi DBS may provide substantial and sustained improvement in both motor and behavioral domains in VPS13A disease, supporting its role as a safe and effective therapeutic option in medication-refractory cases.
Keywords
Chorea-acanthocytosis
deep brain stimulation
GPi DBS
VPS13A disease