title: Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis.
abstract: Chorea-acanthocytosis is a rare autosomal recessive disorder. To date, treatment is only symptomatic and supportive. Results from the few reports of chorea-acanthocytosis patients treated with deep brain stimulation (DBS) have been inconsistent. We present case reports for two patients with chorea-acanthocytosis who received DBS treatment and compare the outcomes with results from the literature. Both patients showed the typical clinical features of chorea-acanthocytosis with motor symptoms resistant to medical treatment. Chorea was significantly improved following low-frequency DBS treatment in both patients. However, dystonia was only mildly improved. Four chorea-acanthocytosis patients treated with DBS treatment have been reported in the literature. One patient had improvement with low-frequency DBS stimulation, while another two had improvement with higher-frequency DBS. One patient, however, did not improve with either low-frequency or high-frequency DBS. Bilateral DBS to the GPi can improve chorea and dystonia in some patients with intractable chorea-acanthocytosis. However, selection criteria for the most promising candidates must be defined, and the long-term benefits evaluated in clinical studies.
authors.affiliation: Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041 SiChuan, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Li
authors.forename: Rui
authors.initials: R
authors.lastname: Huang
authors.forename: Wei
authors.initials: W
authors.lastname: Song
authors.forename: Jie
authors.initials: J
authors.lastname: Ji
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Burgunder
authors.forename: Xing
authors.initials: X
authors.lastname: Wang
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhong
authors.forename: Alain
authors.initials: A
authors.lastname: Kaelin-Lang
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000328:Adult; D001703:Biophysics; D046690:Deep Brain Stimulation / Q000379:methods*; D019788:Fluorodeoxyglucose F18; D005500:Follow-Up Studies; D005917:Globus Pallidus / Q000502:physiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D054546:Neuroacanthocytosis / Q000000981:diagnostic imaging / Q000628:therapy*; D013997:Time Factors; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D019788:Fluorodeoxyglucose F18