• Peng Li, Rui Huang, Wei Song, Jie Ji, Jean-Marc Burgunder, Xing Wang, Qi Zhong, Alain Kaelin-Lang, Wei Wang, and Hui-Fang Shang.
• Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041 SiChuan, China.
• Neurol. Sci. 2012 Apr 1; 33 (2): 269-74.

AbstractChorea-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.

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