Cargando…

Two case reports of chorea-acanthocytosis and review of literature

BACKGROUND: Chorea-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...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Shuangfeng, Zhang, Junliang, Tao, Manli, Lv, Yaodong, Xu, Luyao, Liang, Zhigang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822714/
https://www.ncbi.nlm.nih.gov/pubmed/35130982
http://dx.doi.org/10.1186/s40001-022-00646-7
_version_ 1784646655007522816
author Huang, Shuangfeng
Zhang, Junliang
Tao, Manli
Lv, Yaodong
Xu, Luyao
Liang, Zhigang
author_facet Huang, Shuangfeng
Zhang, Junliang
Tao, Manli
Lv, Yaodong
Xu, Luyao
Liang, Zhigang
author_sort Huang, Shuangfeng
collection PubMed
description BACKGROUND: Chorea-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 PRESENTATION: Here, we present two cases of ChAc diagnosed based on typical clinical symptoms, neuroimaging features, genetic findings of VPS13A, and response to the symptomatic treatment. 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. Nevertheless, it is imperative to investigate the impact of neuroimaging and neuropathological diagnosis in a larger group of ChAc in future studies.
format Online
Article
Text
id pubmed-8822714
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-88227142022-02-08 Two case reports of chorea-acanthocytosis and review of literature Huang, Shuangfeng Zhang, Junliang Tao, Manli Lv, Yaodong Xu, Luyao Liang, Zhigang Eur J Med Res Case Report BACKGROUND: Chorea-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 PRESENTATION: Here, we present two cases of ChAc diagnosed based on typical clinical symptoms, neuroimaging features, genetic findings of VPS13A, and response to the symptomatic treatment. 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. Nevertheless, it is imperative to investigate the impact of neuroimaging and neuropathological diagnosis in a larger group of ChAc in future studies. BioMed Central 2022-02-07 /pmc/articles/PMC8822714/ /pubmed/35130982 http://dx.doi.org/10.1186/s40001-022-00646-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Huang, Shuangfeng
Zhang, Junliang
Tao, Manli
Lv, Yaodong
Xu, Luyao
Liang, Zhigang
Two case reports of chorea-acanthocytosis and review of literature
title Two case reports of chorea-acanthocytosis and review of literature
title_full Two case reports of chorea-acanthocytosis and review of literature
title_fullStr Two case reports of chorea-acanthocytosis and review of literature
title_full_unstemmed Two case reports of chorea-acanthocytosis and review of literature
title_short Two case reports of chorea-acanthocytosis and review of literature
title_sort two case reports of chorea-acanthocytosis and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822714/
https://www.ncbi.nlm.nih.gov/pubmed/35130982
http://dx.doi.org/10.1186/s40001-022-00646-7
work_keys_str_mv AT huangshuangfeng twocasereportsofchoreaacanthocytosisandreviewofliterature
AT zhangjunliang twocasereportsofchoreaacanthocytosisandreviewofliterature
AT taomanli twocasereportsofchoreaacanthocytosisandreviewofliterature
AT lvyaodong twocasereportsofchoreaacanthocytosisandreviewofliterature
AT xuluyao twocasereportsofchoreaacanthocytosisandreviewofliterature
AT liangzhigang twocasereportsofchoreaacanthocytosisandreviewofliterature