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CASE REPORT article

Front. Neurol.
Sec. Movement Disorders
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1377377
This article is part of the Research Topic Progress in Neuroacanthocytosis Syndromes and Related Diseases Including other Bulk Lipid Transfer Disorders View all 5 articles

A case of chorea-acanthocytosis with significant improvement of symptoms at one year with deep brain stimulation: case report and literature review

Provisionally accepted
Yan Xu Yan Xu 1Jiabin Yu Jiabin Yu 2*Yimeng Gao Yimeng Gao 1Qiaozhen Su Qiaozhen Su 2Haitao Xie Haitao Xie 2Hongfeng Liang Hongfeng Liang 2*Chunye Zheng Chunye Zheng 2*
  • 1 The Second Clinical College, Guangzhou University of Chinese Medicine, Guangzhou, China
  • 2 Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, China

The final, formatted version of the article will be published soon.

    Chorea-acanthocytosis (ChAc ) is a rare, neurodegenerative disorder caused by mutations in the VPS13A gene. In this article, we report on a 32-year-old man diagnosed with ChAc, with involuntary movements of the mouth and trunk, drooling of the mouth, slurred speech, and abnormal vocalizations as the main clinical manifestations. Three weeks after implantation of globus pallidus internal (GPi)-deep brain stimulation (DBS), the patient's symptoms improved significantly. For example, articulation is clear, involuntary trunk movements and salivation have largely disappeared, and abnormal vocalizations have been significantly reduced. After 1 year of follow-up, the improvement in involuntary movement symptoms is essentially the same as before. As far as we know, we are the first to report the relief of involuntary vocalizations in a patient with GPi-DBS treatment, and that salivation and involuntary trunk movements have almost disappeared, and all other symptoms are significantly relieved, which is rare in previous cases. All of the above proves that the treatment of our case with DBS was very successful and that longer term follow-up is critical. We also hope that our case will provide new references and therapeutic ideas for the future treatment of patients with ChAc.

    Keywords: Chorea-acanthocytosis, involuntary movement, abnormal vocalizations, globus pallidus internal, Deep Brain Stimulation

    Received: 02 Feb 2024; Accepted: 15 Jul 2024.

    Copyright: © 2024 Xu, Yu, Gao, Su, Xie, Liang and Zheng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Jiabin Yu, Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, China
    Hongfeng Liang, Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, China
    Chunye Zheng, Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, China

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