Journal of Apoplexy and Nervous Diseases 2023;40(8):692-696

doi:10.19845/j.cnki.zfysjjbzz.2023.0158

Clinical features,diagnosis,and treatment of chorea-acanthocytosis

Huiqing LIU 1 ; Shuai HOU 1

Affiliations

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Keywords

Chorea-acanthocytosis; Neuroacanthocytosis; VPS13A; Chorein protein

Country

China

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.