Two case reports of chorea-acanthocytosis and review of literature

Shuangfeng Huang,Luyao Xu,Zhigang Liang,Yaodong Lv,Manli Tao,Junliang Zhang

doi:10.1186/s40001-022-00646-7

Abstract

BackgroundChorea-acanthocytosis (ChAc), as the most common subtype of neuroacanthocytosis syndrome, is characterized by the presence of acanthocytes and neurological symptoms. It is thought to be caused by the VPS13A (vacuolar protein sorting-associated protein 13A) mutations. This article reports two confirmed cases of ChAc and summarizes some suggestive features, which provide direction for the diagnosis and treatment of acanthocytosis in the future.Case presentationHere, we present two cases of ChAc diagnosed based on typical clinical symptoms, neuroimaging features, genetic findings of VPS13A, and response to the symptomatic treatment.ConclusionsChorea-acanthocytosis is a rare neurodegenerative disease with various early clinical manifestations. The final diagnosis of the ChAc can be established by either genetic analysis or protein expression by Western blotting. Supportive treatments and nursing are helpful to improve the quality of the patient’s life. Nevertheless, it is imperative to investigate the impact of neuroimaging and neuropathological diagnosis in a larger group of ChAc in future studies.

Highlights

Chorea-acanthocytosis (ChAc), as the most common subtype of neuroacanthocytosis syndrome, is characterized by the presence of acanthocytes and neurological symptoms
Chorea-acanthocytosis (ChAc) is a rare genetic disease caused by loss-of-function-mutation of the vacuolar protein sorting-associated protein 13A (VPS13A) which is an encoding gene of the protein chorein [1, 2]
The differential diagnosis of ChAc includes McLeod syndrome (MLS), pantothenate kinase-associated neurodegeneration (PKAN), Huntington’s diseaselike 2 (HDL2), other forms of inherited chorea, other forms of Huntington-like disorders, other syndromes of neurodegeneration with brain iron accumulation (NBIAs), Wilson disease, and acquired conditions caused by infection, immunization, drugs, etc

Summary

Conclusions

Chorea-acanthocytosis is a rare neurodegenerative disease with various early clinical manifestations. The final diagnosis of the ChAc can be established by either genetic analysis or protein expression by Western blotting. Supportive treatments and nursing are helpful to improve the quality of the patient’s life. It is imperative to investigate the impact of neuroimaging and neuropathological diagnosis in a larger group of ChAc in future studies

Findings

Background

Discussion and conclusions