As síndromes de Neuroacantocitose (NA) são um grupo de doenças genéticas caracterizadas pela combinação de acantocitose dos glóbulos vermelhos (isto é, glóbulos vermelhos com formato alterado, apresentando saliências que parecem espinhos) e a degeneração progressiva dos gânglios da base (uma parte do cérebro).
Introdução
O que você precisa saber de cara
As síndromes de Neuroacantocitose (NA) são um grupo de doenças genéticas caracterizadas pela combinação de acantocitose dos glóbulos vermelhos (isto é, glóbulos vermelhos com formato alterado, apresentando saliências que parecem espinhos) e a degeneração progressiva dos gânglios da base (uma parte do cérebro).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 97 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 203 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição.
Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:16272150, PubMed:17242360, PubMed:17825826). Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC) (PubMed:30221726) Cytoplasmic isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzym
MitochondrionMitochondrion intermembrane spaceNucleusCytoplasm
Neurodegeneration with brain iron accumulation 1
Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI.
Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane
Endoplasmic reticulum membrane
McLeod syndrome
A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy.
Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phospholipids (PubMed:34830155). Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (PubMed:30741634). Negatively regulates lipid droplet size and motility (PubMed:30741634). Required for efficient lysosomal protein degradation (PubMed:30709847)
Mitochondrion outer membraneEndoplasmic reticulum membraneEndosome membraneLysosome membraneLipid dropletGolgi apparatusCytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle
Choreoacanthocytosis
An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation.
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory
Cell membraneEndoplasmic reticulum membrane
Huntington disease-like 2
Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life.
Variantes genéticas (ClinVar)
1,607 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Neuroacantocitose
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Clinical and genetic findings of three patients with chorea-acanthocytosis.
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in the VPS13A gene, encoding chorein, a protein involved in membrane homeostasis. Three clinical cases are described. The first, a 36-year-old man, presented with hyperkinetic movements, seizures, psychiatric symptoms, and caudate atrophy. Genetic testing revealed a homozygous splice-site mutation (c.9276-2 A> T) in VPS13A. The second case involved a patient with a milder phenotype but typical ChAc features, except epilepsy. A homozygous deletion which includes exons 69 and 70 was identified. This deletion is absent from control population databases and is described for the first time. Her younger brother, complaining of hyperCKemia and involuntary movements, was tested and identified as a homozygous carrier of the same deletion. ChAc should be considered in case of patients featuring a plethora of diffuse symptoms showing multisystemic involvement. Comprehensive genetic testing in patients with complex neurological symptoms might improve diagnostic accuracy and enhance knowledge of genotype-phenotype correlations in ChAc.
The Diverse Neuromuscular Spectrum of VPS13A Disease.
VPS13A disease (chorea-acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease. We systematically assessed the neuromuscular involvement in six patients with VPS13A disease. Our evaluation included genetic and clinical data, blood tests, electrophysiological studies, muscle MRI, and tissue samples from muscle and nerve. Age at clinical onset was 14 to 38 years (median: 37.5). Age at onset of paresis was 27 to 29 years (median: 29). Initial symptoms included seizures (5/6), hyperkinesia (2/6), and muscle weakness (1/6). Neuromuscular signs ranged from hyporeflexia (5/6) to progressive muscle wasting (3/6). Nine VPS13A variants were detected, including a novel copy-neutral inversion. Phosphocreatine kinase was elevated in all cases (498-12,420 U/L; median of highest values: 2230 U/L). Nerve conduction studies revealed sensorimotor axonal neuropathy. Electromyography showed chronic neurogenic changes with high amplitudes, polyphasic potentials, and reduced interference patterns (6/6). Muscle MRI displayed fatty atrophy, most prominently in the calves (5/5). Muscle histology indicated neurogenic and myopathic changes. Electron microscopy of mitochondria and respiratory chain analysis showed no specific pathological findings. Our findings emphasize the underrecognized neuromuscular spectrum in VPS13A disease, ranging from subclinical signs to severe paresis and sometimes preceding the hyperkinesia that gave rise to the historical term of chorea-acanthocytosis. A comprehensive understanding of the phenotype is crucial for early diagnosis and appropriate management of VPS13A disease.
Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.
The 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related Disorders was held on September 12th-14th, 2025, at the Jules Gonin Eye Hospital in Lausanne, Switzerland. This long-standing series of international symposia has traditionally focused on neuroacanthocytosis syndromes and associated disorders. The program further broadened its scope to include Cohen syndrome, reflecting the growing recognition of shared molecular features and common unsolved questions across VPS13-related disorders. The aim of the meeting was to present the latest updates in the field, from both clinical and basic science perspectives, and to facilitate collaboration and exchange of ideas among researchers, clinicians, and the patient community. An important aspect of these meetings is the active involvement of patients, their relatives and caregivers, who were invited to attend scientific sessions, in addition to participating in parallel patient-oriented sessions. A total of 20 oral communications were presented in eight scientific sessions accompanied by two keynote lectures, short talks by selected poster presenters, and the 2025 "Glenn Irvine Prize" award lecture.
A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
VPS13A disease is a rare, autosomal-recessive, neurodegenerative disorder characterized by involuntary movements, orofacial dystonia, seizures, psychiatric symptoms, and the presence of spiky, deformed red blood cells (acanthocytes). The disease is caused by mutations in the VPS13A gene, which encodes the VPS13A protein (previously known as chorein). This protein is a member of the family of bridge-like lipid transport proteins, involved in bulk lipid transfer between membranes and intracellular vesicle trafficking. We describe the case of a 37-year-old woman with gait instability, semi-flexed legs, and involuntary distal muscle movements. Genetic testing was performed using next-generation sequencing (NGS), followed by molecular analysis. Fibroblasts from the patient, her mother, and a healthy control were analyzed by immunofluorescence and Western blotting. NGS identified a novel homozygous 2.8 kb deletion encompassing exons 69-70 (69-70del) of the VPS13A gene (NM_033305.3). The same variant was detected in the patient's mother in a heterozygous state and her brother in a homozygous state. Although other deletions in the gene have been described, a comprehensive search of population variant databases and the existing literature did not reveal previous reports of this deletion. Fibroblasts from the patient, her mother and a healthy control were characterized. Functional assays showed a complete absence of the VPS13A protein in the patient's fibroblasts. This study expands the mutational spectrum of VPS13A-linked VPS13A disease and underlines the importance of comprehensive genetic analysis in atypical cases.
Chorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis.
Choreo-acanthocytosis (hAc) is an autosomal-recessive, neurodegenerative disorder, often presenting as movement disorder, seizures and behavioural changes. This case report describes a male patient who presented with progressive movement disorder, long-standing seizures and cognitive impairment. Neurological examination and neuroimaging revealed features suspicious for basal ganglia degeneration. Routine metabolic and infectious investigations were negative. Genetic testing identified a likely pathogenic VPS13A variant (c.799C>T, p.Arg267Ter), a rare genetic mutation associated with ChAc. This report highlights the complexities of diagnosis, differential considerations, the importance of genetic testing in atypical movement disorders, therapeutic strategies,and the detrimental impact of the VPS13A gene mutation on the patient's quality of life. This case also tries to expand the known mutational spectrum of the VPS13A gene and its varied clinical presentation.
Publicações recentes
Chronic Granulomatous Disease.
Proceedings of the 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.
A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.
Chorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis.
Update on Genetic Chorea.
📚 EuropePMC147 artigos no totalmostrando 192
Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.
Tremor and other hyperkinetic movements (New York, N.Y.)Clinical and genetic findings of three patients with chorea-acanthocytosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
International journal of molecular sciencesKell and Kx blood group systems: an update.
ImmunohematologyA novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.
NeurogeneticsChorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis.
BMJ case reportsUpdate on Genetic Chorea.
European journal of neurologyThe Diverse Neuromuscular Spectrum of VPS13A Disease.
Annals of clinical and translational neurologyNovel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families.
Frontiers in neurologyNeuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.
Neuropathology and applied neurobiologyMcLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.
Neuromuscular disorders : NMDVEXAS syndrome-associated tumefactive demyelination.
Journal of neurologyVarious Gait Patterns in Chorea-Acanthocytosis.
Movement disorders clinical practiceClinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India.
Parkinsonism & related disorders[Hereditary Extrapyramidal Disorders Encountered in Daily Clinical Practice: Motor Symptoms, Causal Genes, and Treatment of Huntington's Disease, Neuroacanthocytosis, and Hereditary Dystonia].
Brain and nerve = Shinkei kenkyu no shinpoPremature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.
Acta neuropathologica communicationsHematopoietic Cell Transplantation in a Patient With X-Linked Chronic Granulomatous Disease With McLeod Phenotype.
Pediatric transplantationTwo case reports of RAB39B deletion displaying highly variable parkinsonism.
Parkinsonism & related disordersRed blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.
Frontiers in physiologyImmunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management.
Cellular immunology[Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)].
Ideggyogyaszati szemleFeeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome.
Lancet (London, England)Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.
Cardiology in the youngPhosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis.
Movement disorders : official journal of the Movement Disorder SocietyExploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease.
Frontiers in neurologyNeuroacanthocytosis: Case report and neuroimaging findings.
Radiology case reportsChorein deficiency promotes ferroptosis.
FEBS open bioMitochondrial DNA replication is essential for neurogenesis but not gliogenesis in fetal neural stem cells.
Development, growth & differentiationCase report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.
Frontiers in neuroscienceClinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.
Molecular genetics & genomic medicineIdentification of pivotal genes and pathways in Chorea-acanthocytosis using comprehensive bioinformatic analysis.
PloS oneTreatment of a lip defect in a patient with chorea-acanthocytosis using a combination of surgical and adjuvant onabotulinumtoxinA therapy: a case report.
Archives of craniofacial surgeryCase report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.
Frontiers in geneticsSystematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier.
Orphanet journal of rare diseasesOsmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.
Frontiers in neuroscienceAnalysis of Brain, Blood, and Testis Phenotypes Lacking the Vps13a Gene in C57BL/6N Mice.
International journal of molecular sciencesA Man With Progressive Chorea and Abnormal Trunk Movements.
CureusMorvan Fibrillary Chorea Associated with Monoclonal B Cell Lymphocytosis.
The American journal of case reportsPhysiological and Pathogenesis Significance of Chorein in Health and Disease.
Physiological researchIdentification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).
Molecular genetics and genomics : MGGBasal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome).
Journal of movement disordersPharmacological interventions for lipid transport disorders.
Frontiers in neuroscienceNeuroacanthocytosis Syndromes: The Clinical Perspective.
Contact (Thousand Oaks (Ventura County, Calif.))A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyProceedings of the Eleventh International Meeting on Neuroacanthocytosis Syndromes.
Tremor and other hyperkinetic movements (New York, N.Y.)Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineNovel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report.
BMC neurologyA Case of McLeod's Syndrome Presenting with Severe Decompensated Heart Failure.
Methodist DeBakey cardiovascular journalVPS13A knockdown impairs corticostriatal synaptic plasticity and locomotor behavior in a new mouse model of chorea-acanthocytosis.
Neurobiology of diseaseAn Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).
Movement disorders : official journal of the Movement Disorder SocietyMultisystem pathology in McLeod syndrome.
Neuropathology : official journal of the Japanese Society of NeuropathologyVPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics.
Contact (Thousand Oaks (Ventura County, Calif.))Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea-Acanthocytosis.
Movement disorders : official journal of the Movement Disorder SocietySleep Disorders in Patients with Choreic Syndromes.
Current neurology and neuroscience reportsExome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).
Molecular genetics and genomics : MGGEffect of rapamycin on lysosomal accumulation in a CRISPR/Cas9-based cellular model of VPS13A deficiency.
Journal of cellular and molecular medicineEfficacy of Electroconvulsive Therapy for the Treatment of Movement Disorders: A Literature Review.
CureusTongue-biting ataxia that appeared to be a psychiatric disorder: a case of neuroacanthocytosis.
Acute medicine & surgeryHow we approach transfusions in a patient with high risk of alloimmunization from McLeod phenotype.
Pediatric blood & cancerCommentary: Acanthocytes identified in Huntington's disease.
Frontiers in neuroscienceEndosomal recycling defects link Huntington's disease with McLeod syndrome.
The Journal of cell biologyChronic granulomatous disease and McLeod syndrome: Stem cell transplant and transfusion support in a 2-year-old patient-a case report.
Frontiers in immunologyThe XK plasma membrane scramblase and the VPS13A cytosolic lipid transporter for ATP-induced cell death.
BioEssays : news and reviews in molecular, cellular and developmental biologyA partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.
Proceedings of the National Academy of Sciences of the United States of AmericaSleep disorders in McLeod syndrome: A case series.
Parkinsonism & related disordersInteraction between VPS13A and the XK scramblase is important for VPS13A function in humans.
Journal of cell scienceVery Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.
Movement disorders clinical practiceClinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population.
Neuro-degenerative diseasesAcanthocytes Identified in Huntington's Disease.
Frontiers in neuroscienceMovement disorders and neuropathies: overlaps and mimics in clinical practice.
Journal of neurologyHyperpigmentation Probably Related to Haloperidol in a Patient with Neuroacanthocytosis.
Movement disorders clinical practiceErysense, a Lab-on-a-Chip-Based Point-of-Care Device to Evaluate Red Blood Cell Flow Properties With Multiple Clinical Applications.
Frontiers in physiologyYeast as a Model to Find New Drugs and Drug Targets for VPS13-Dependent Neurodegenerative Diseases.
International journal of molecular sciencesMcLeod syndrome with a novel XK frameshift mutation: A case report.
MedicineA Case of Chorea-Acanthocytosis with FDG PET/CT Imaging.
Nuklearmedizin. Nuclear medicineXK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.
Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und ImmunhamatologieTwo case reports of chorea-acanthocytosis and review of literature.
European journal of medical researchCompound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Report and Review of the Literature.
Laboratory medicineDeep brain stimulation for chorea-acanthocytosis: a systematic review.
Neurosurgical reviewNemaline Rods in a Patient of Chorea-Acanthocytosis with a Novel Pathogenic Mutation of VPS13A Gene.
Neurology IndiaNeuropathology of McLeod Syndrome.
Movement disorders : official journal of the Movement Disorder SocietyOrofacial manifestations of chorea-acanthocytosis: case presentation and literature review.
Quintessence international (Berlin, Germany : 1985)Acupuncture for treating symptoms associated with chorea-acanthocytosis: A CARE-compliant case report.
Explore (New York, N.Y.)Enlarging the clinical spectrum of chorea-acanthocytosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology[Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova[A case report of O'Sullivan-McLeod syndrome].
Zhonghua nei ke za zhiMcLeod Syndrome in a Commercial Airline Pilot.
Aerospace medicine and human performanceThree new XK alleles; two associated with a McLeod RBC phenotype.
TransfusionBrain F-18 FDG and F-18 FP-CIT PET/CT Findings of c.856_860delCTCTA Mutation McLeod Syndrome.
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive NeurologyThe Spectrum of Movement Disorders in Neuroacanthocytosis Syndromes: A Video Series.
Movement disorders clinical practiceClinical Spectrum of Movement Disorders in Neurology Inpatients in a Tertiary Care Centre.
Journal of neurosciences in rural practiceCOVID-19 and patient engagement in health research: What have we learned?
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneHeterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures.
Case reports in neurologyCardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome.
Parkinsonism & related disordersTargeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.
Journal of personalized medicineThe Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib.
BiomoleculesProceedings of the Tenth International Meeting on Neuroacanthocytosis Syndromes.
Tremor and other hyperkinetic movements (New York, N.Y.)Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.
Acta neuropathologica communicationsAcanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification.
CellsNeuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
GenesNovel c.435delC mutation in XK gene found in a Taiwanese patient with McLeod syndrome.
Transfusion"Neuroacanthocytosis" - Overdue for a Taxonomic Update.
Tremor and other hyperkinetic movements (New York, N.Y.)A novel c.82insC (p.Tyr28Leufs85X) mutation in the XK gene associated with the McLeod phenotype.
TransfusionNeurofilament light chain in serum is significantly increased in chorea-acanthocytosis.
Parkinsonism & related disordersXK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.
Molecular biology of the cellDilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?
Clinical neurology and neurosurgeryChronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series.
Journal of clinical immunologySeizures in Alzheimer's disease are highly recurrent and associated with a poor disease course.
Journal of neurologyDecreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.
Scientific reportsThe binding of the APT1 domains to phosphoinositides is regulated by metal ions in vitro.
Biochimica et biophysica acta. BiomembranesA Novel XK Gene Mutation Causative of McLeod Syndrome.
Movement disorders clinical practiceCombined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
International journal of molecular sciencesNovel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.
BMC medical geneticsNovel VPS13A Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis.
Neurology IndiaChorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report.
Journal of the neurological sciencesIdentification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.
Molecular genetics & genomic medicineSubthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyChorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings.
Journal of neuroradiology = Journal de neuroradiologieA patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.
BMC neurologyChorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.
Journal of the neurological sciencesDiscriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis.
Journal of the neurological sciencesOrofacial Dyskinesia in a Young Man.
JAMA neurologyNeurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.
Tremor and other hyperkinetic movements (New York, N.Y.)Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.
Pediatric neurologyNeuroacanthocytosis: a case report of chorea-acanthocytosis.
Journal of integrative neuroscienceThe first case report of McLeod syndrome in an infant with a novel mutation (c.89C>A, p. Ser30X) in XK.
Clinical neurology and neurosurgeryMcLeod syndrome: Five new pedigrees with novel mutations.
Parkinsonism & related disordersExpert comment to: Novel Xp21.1 deletion associated with unusual features in large McLeod syndrome kindred.
Parkinsonism & related disordersA Case of McLeod Syndrome with A Novel XK Missense Mutation.
Movement disorders clinical practiceThe "Stutter-Step": A Peculiar Gait Feature in Advanced Huntington's Disease and Chorea-Acanthocytosis.
Movement disorders clinical practiceHuman VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.
eLifeChorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation.
Frontiers in neurologyHigh Frequency Bilateral Globus Pallidus Interna Deep Brain Stimulation Can Improve Both Chorea and Dysarthria in Chorea-acanthocytosis.
Parkinsonism & related disordersYeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis.
Disease models & mechanismsNeuroacanthocytosis with unusual clinical features: A case report.
MedicineChorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family.
Tremor and other hyperkinetic movements (New York, N.Y.)O'Sullivan-McLeod syndrome: Unmasking a rare atypical motor neuron disease.
Revue neurologiqueProceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes.
Tremor and other hyperkinetic movements (New York, N.Y.)Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome.
Parkinsonism & related disordersGlobus Pallidus Internal Deep-Brain Stimulation in a Patient with Neuroacanthocytosis with Drug-Induced Parkinsonism.
Stereotactic and functional neurosurgeryMolecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.
JAMA neurologyDefective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling.
Molecular and cellular neurosciencesDisturbed Red Blood Cell Structure and Function: An Exploration of the Role of Red Blood Cells in Neurodegeneration.
Frontiers in medicineMouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece.
Biochemical and biophysical research communicationsHuntington's disease-like disorders in Latin America and the Caribbean.
Parkinsonism & related disordersPathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease.
Neuropathology and applied neurobiologyPallidal Deep Brain Stimulation in Patients With Chorea-Acanthocytosis.
Neuromodulation : journal of the International Neuromodulation SocietyProgress in the Diagnosis and Management of Chorea-acanthocytosis.
Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chihNovel XK mutation in a McLeod patient diagnosed after heart transplant.
Clinical neurology and neurosurgeryWeight loss due to feeding dyskinesia: A presenting symptom of neuroacanthocytosis.
Neurology IndiaSubcortical neurodegeneration in chorea: Similarities and differences between chorea-acanthocytosis and Huntington's disease.
Parkinsonism & related disordersPhenomenology and disease progression of chorea-acanthocytosis patients in Spain.
Parkinsonism & related disordersCurrent state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.
European journal of medical geneticsStriking lack of visualization of striatum on 18F-FDG brain PET in chorea-acanthocytosis.
European journal of nuclear medicine and molecular imagingAbsence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.
Tremor and other hyperkinetic movements (New York, N.Y.)Value of 18F-FDG PET/CT in the diagnosis of chorea-acanthocytosis.
Revista espanola de medicina nuclear e imagen molecularNeurons, Erythrocytes and Beyond -The Diverse Functions of Chorein.
Neuro-Signals[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].
Orvosi hetilapAcanthocytes in the McLeod phenotype of X-linked chronic granulomatous disease.
TransfusionIs Dexmedetomidine a Miracle Drug for Sedation in Patients With Neuroacanthocytosis With Involuntary Movements?
Journal of neurosurgical anesthesiologyYeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease.
Traffic (Copenhagen, Denmark)Lithium Sensitivity of Store Operated Ca2+ Entry and Survival of Fibroblasts Isolated from Chorea-Acanthocytosis Patients.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacologyLithium Sensitive ORAI1 Expression, Store Operated Ca2+ Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis.
Scientific reportsDisruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis.
Neuroscience letters[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].
Fortschritte der Neurologie-PsychiatrieStepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome.
TransfusionChorea-acanthocytosis without chorea: Expanding the clinical phenotype.
Parkinsonism & related disordersChorea and Orofaciolingual Dystonia in a 40 Year Old Male.
The Journal of the Association of Physicians of IndiaAn Interesting Case of a Movement Disorder.
The Journal of the Association of Physicians of IndiaHippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation.
Neuropathology and applied neurobiologyAmino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.
Human molecular geneticsDrug-induced endovesiculation of erythrocytes is modulated by the dynamics in the cytoskeleton/membrane interaction.
Blood cells, molecules & diseasesHyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacologyEighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.
Tremor and other hyperkinetic movements (New York, N.Y.)Neuroacanthocytosis: A case with unusual clinical features & novel response to treatment.
Journal of the neurological sciencesNeuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization.
The Journal of neuroscience : the official journal of the Society for Neuroscience[Epilepsy revealing chorea-acanthocytosis: about a case].
The Pan African medical journalA new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.
BloodAbnormal eye movements in three types of chorea.
Arquivos de neuro-psiquiatriaClinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.
Clinical neurology and neurosurgeryYeast Vps13 promotes mitochondrial function and is localized at membrane contact sites.
Molecular biology of the cellDeep brain stimulation for the treatment of hyperkinetic movement disorders.
Expert review of neurotherapeuticsIs postoperative encephalopathy with choreoathetosis an acquired form of neuroacanthocytosis?
Medical hypothesesChorea-acanthocytosis: a case report.
International medical case reports journalPhenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background.
Biochemical and biophysical research communicationsSeizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
EpilepsiaDeep brain bilateral pallidal stimulation in chorea-acanthocytosis caused by a homozygous VPS13A mutation.
European journal of neurologyTeaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.
NeurologyBrain FDG-PET showing striatal hypometabolism in a case of chorea-acanthocytosis.
Revista espanola de medicina nuclear e imagen molecularManagement of Neuroacanthocytosis Syndromes.
Tremor and other hyperkinetic movements (New York, N.Y.)Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case.
Cranio : the journal of craniomandibular practiceFDG PET brain scan demonstrated glucose hypometabolism of bilateral caudate nuclei and putamina in a patient with chorea-acanthocytosis.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Clinical and genetic findings of three patients with chorea-acanthocytosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2026· PMID 41484683mais citado
- The Diverse Neuromuscular Spectrum of VPS13A Disease.
- Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.
- A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
- Chorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis.
- Chronic Granulomatous Disease.
- A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.
- Update on Genetic Chorea.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:263440(Orphanet)
- MONDO:0016987(MONDO)
- GARD:10902(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q746781(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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