Objective: We report on the efficacy of bilateral Globus pallidus interna deep brain stimulation as a treatment for Chorea-acanthocytosis (ChAc).

Background: ChAc is an autosomal recessive, neurodegenerative disease. It results from a mutation in the VPS13A gene which encodes for the protein Chorein.

Method: We report on the motor and non-motor outcomes of bilateral Gpi Deep Brain Stimulation surgery on a 36 year-old woman with ChAc. Prior to surgery, she had very little independent mobility and was unable to speak or swallow. All nutrition and medication were given via a PEG tube.

Results: At two months post-op she showed a marked improvement in motor function. She required high frequency stimulation (220Hz) to achieve improvement. At 2 months post-op her gait and swallowing had returned to within almost normal limits and speech improved significantly. These results were not fully sustained by six months at which point, she showed partial deterioration. Of major concern was the increase in neuropsychiatric symptoms such as impulsivity, disinhibition, and obsessionality which led to significant psychosocial complications.

Conclusion: At two months post-op she showed a marked improvement in motor function. She required high frequency stimulation (220Hz) to achieve improvement. At 2 months post-op her gait and swallowing had returned to within almost normal limits and speech improved significantly. These results were not fully sustained by six months at which point, she showed partial deterioration. Of major concern was the increase in neuropsychiatric symptoms such as impulsivity, disinhibition, and obsessionality which led to significant psychosocial complications.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/bilateral-globus-pallidus-interna-deep-brain-stimulation-for-the-treatment-of-chorea-acanthocytosis-a-case-report-from-south-africa/