A case of chorea-acanthocytosis with psychiatric and behavioral symptoms as the primary clinical manifestation
10.3760/cma.j.cn113661-20231009-00124
- VernacularTitle:以精神行为症状为主要临床相的神经性棘红细胞增多症1例
- Author:
Chengcheng PU
1
;
Xiaolin YIN
1
;
Xin YU
1
Author Information
1. 北京大学第六医院 北京大学精神卫生研究所 国家卫生健康委员会精神卫生学重点实验室（北京大学）国家精神心理疾病临床医学研究中心（北京大学第六医院），北京 100191
- Publication Type:Journal Article
- Keywords:
Chorea;
Chorea-acanthocytosis;
Mental disorders;
VPS13A gene
- From:
Chinese Journal of Psychiatry
2024;57(9):615-619
- CountryChina
- Language:Chinese
-
Abstract:
Chorea-acanthocytosis (ChAc) is a rare, severe, and progressive hereditary neurodegenerative disease with a poor prognosis. The patient in this case was a 29-year-old female who presented with gradually worsening behavioral abnormalities and slurred speech as the main symptoms. Gene sequencing revealed a mutation in the VPS13A gene, leading to a diagnosis of"Chorea-acanthocytosis". This case report aims to improve the awareness among psychiatrists in distinguishing movement disorders and behavioral disorders. Combined with a literature review on the clinical manifestations, differential diagnosis, and genetic testing, this paper may help psychiatrists in early identification and accurate diagnosis of ChAc.
