ReviewJournal of movement disorders2015
Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.
Review in Journal of movement disorders, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 61 citations in OpenAlex.
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Long-term subclinical severe hyperCKemia associated with a rare VPS13A gene mutation in an Iranian patient: Case report.Current journal of neurology · 2024Article
- Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novelFrontiers in 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
- Exploring the pathophysiological mechanisms and wet biomarkers ofFrontiers in neurology · 2024Review
- Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data.Journal of movement disorders · 2022Article
- Skin Conditions and Movement Disorders: Hiding in Plain Sight.Movement disorders clinical practice · 2022Review
- Two case reports of chorea-acanthocytosis and review of literature.European journal of medical research · 2022Review
- Vacuolar Protein-Sorting Receptor MoVps13 Regulates Conidiation and Pathogenicity in Rice Blast FungusJournal of fungi (Basel, Switzerland) · 2021Article
- Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.Molecular genetics & genomic medicine · 2020Article
- VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation.Disease models & mechanisms · 2019Article
- Article
- Chorea-acanthocytosis: Homozygous 1-kb deletion inNeurology. Genetics · 2018Article
- Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Article
- Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation.Neuropathology and applied neurobiology · 2017Article
- Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.Tremor and other hyperkinetic movements (New York, N.Y.) · 2017Article
- NovelFrontiers in aging neuroscience · 2017Article
- Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Current neurology and neuroscience reports · 2016Review
- Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.Journal of movement disorders · 2016Article
- Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.Tremor and other hyperkinetic movements (New York, N.Y.) · 2016Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here-chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.
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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 OpenQuestion graph.