Clinical features,diagnosis,and treatment of chorea-acanthocytosis
10.19845/j.cnki.zfysjjbzz.2023.0158
- VernacularTitle:舞蹈症-棘红细胞增多症临床特征及诊治
- Author:
Huiqing LIU
1
;
Shuai HOU
1
Author Information
1. Department of Neurology,The First Hospital of Jilin University,Changchun 130021,China
- Publication Type:Journal Article
- Keywords:
Chorea-acanthocytosis;
Neuroacanthocytosis;
VPS13A;
Chorein protein
- From:
Journal of Apoplexy and Nervous Diseases
2023;40(8):692-696
- CountryChina
- Language:Chinese
-
Abstract:
Chorea-acanthocytosis(ChAc) is a common type of neuroacanthocytosis,and the VPS13A gene which settles on autosomal 9q21 is the only pathogenic gene. ChAc has the typical features of neurological degeneration and peripheral blood acanthocytosis,as well as complex and diverse clinical manifestations and variable results of auxiliary examinations. At present,there are still no unified diagnosis and treatment standards for this disease in China and globally. By summarizing related articles,this article elaborates on ChAc from the aspects of etiology and pathogenesis,clinical manifestations,diagnostic criteria,treatment,disease management,and prognosis.
- Full text:2024061610182344528舞蹈症-棘红细胞增多症临床特征及诊治.pdf
