ReviewEuropean journal of medical research2022
Two case reports of chorea-acanthocytosis and review of literature.
Review in European journal of medical research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- A NovelInternational journal of molecular sciences · 2025Article
- Article
- Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.Molecular genetics & genomic medicine · 2024Article
- Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).Molecular genetics and genomics : MGG · 2024Article
- Long-term subclinical severe hyperCKemia associated with a rare VPS13A gene mutation in an Iranian patient: Case report.Current journal of neurology · 2024Article
- A case of chorea-acanthocytosis with significant improvement of symptoms at one year with deep brain stimulation: case report and literature review.Frontiers in neurology · 2024Article
- Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novelFrontiers in neurology · 2024Article
- Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report.BMC neurology · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 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.
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.
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