Xu Yan, Yu Jiabin, Gao Yimeng, Su Qiaozhen, Xie Haitao, Liang Hongfeng, Zheng Chunye
The Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, China.
Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, Guangzhou, China.
Front Neurol. 2024 Jul 25;15:1377377. doi: 10.3389/fneur.2024.1377377. eCollection 2024.
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.
舞蹈病-棘红细胞增多症（ChAc）是一种由VPS13A基因突变引起的罕见神经退行性疾病。在本文中，我们报告了一名32岁被诊断为ChAc的男性患者，其主要临床表现为口部和躯干的不自主运动、流口水、言语不清以及异常发声。在植入内侧苍白球（GPi）-脑深部电刺激（DBS）三周后，患者症状显著改善。例如，发音清晰，躯干不自主运动和流涎基本消失，异常发声明显减少。经过1年的随访，不自主运动症状的改善情况与之前基本相同。据我们所知，我们是首个报道GPi-DBS治疗患者不自主发声得到缓解，且流涎和躯干不自主运动几乎消失，其他所有症状均显著缓解的案例，这在以往病例中较为罕见。以上所有均证明我们对该病例的DBS治疗非常成功，且长期随访至关重要。我们也希望我们的病例能为未来ChAc患者的治疗提供新的参考和治疗思路。
