ArticleTremor and other hyperkinetic movements (New York, N.Y.)2021
"Neuroacanthocytosis" - Overdue for a Taxonomic Update.
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed.
- Proceedings of the 12Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Various Gait Patterns in Chorea-Acanthocytosis.Movement disorders clinical practice · 2025Article
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.Neuropathology and applied neurobiology · 2025Article
- Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.Acta neuropathologica communications · 2025Article
- Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.Frontiers in physiology · 2025Article
- Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.Molecular genetics & genomic medicine · 2024Article
- Case report: Neuroacanthocytosis associated with novel variants in theFrontiers in neuroscience · 2024Article
- Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.Frontiers in neuroscience · 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
- Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).Molecular genetics and genomics : MGG · 2023Article
- The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5.Life science alliance · 2023Article
- Proceedings of the Eleventh International Meeting on Neuroacanthocytosis Syndromes.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Yeast Models and Molecular Mechanisms of Neurodegenerative Diseases 2.0.International journal of molecular sciences · 2022Article
- Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans.Journal of cell science · 2022Article
- Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.Movement disorders clinical practice · 2022Article
- XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2022Review
- Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium.Frontiers in physiology · 2022Article
- Commentary: Acanthocytes identified in Huntington's disease.Frontiers in neuroscience · 2022Article
- Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain.International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The term "neuroacanthocytosis" (NA) is used for a spectrum of neurological disorders in which there are thorny red blood cells. While NA historically referred to disorders of lipoprotein absorption, we have promoted it as an overarching term for a group of basal ganglia disorders, with specific reference to two diseases that we defined as "core" NA syndromes. "Neuroacanthocytosis" has also been used to refer to a specific, now genetically-defined disease, otherwise known as "chorea-acanthocytosis". These various usages have resulted in diagnostic confusion, and in a number of cases have quite likely prevented the pursuance of precise, molecular, diagnosis. Disease nomenclature is an ever-evolving field, especially in the current era of expanding genetics, and naming proposals are often far from ideal. We, however, suggest that the term "neuroacanthocytosis" should no longer be generally used and if so, only with appropriate understanding of its limitations. Further, we propose that chorea-acanthocytosis be renamed as "
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.