Research & Literature

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

Walker RH

Journal of movement disorders 2015; (8(2)):41-54 doi:10.14802/jmd.15009.

Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case.

Ortega MC, Skármeta NP, Diaz YJ

Cranio : the journal of craniomandibular practice 2016; (34(5)):332-7 doi:10.1179/2151090315Y.0000000027.

Management of Neuroacanthocytosis Syndromes.

Walker RH

Tremor and other hyperkinetic movements (New York, N.Y.) 2015; (5()):346 doi:10.7916/D8W66K48.

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Benninger F, Afawi Z, Korczyn AD, et al.

Epilepsia 2016; (57(4)):549-56 doi:10.1111/epi.13318.

Evidence-Based Guideline: Treatment of Convulsive Status Epilepticus in Children and Adults: Report of the Guideline Committee of the American Epilepsy Society.

Glauser T, Shinnar S, Gloss D, et al.

Epilepsy currents 2016; (16(1)):48-61 doi:10.5698/1535-7597-16.1.48.

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

Dulski J, Sołtan W, Schinwelski M, et al.

Clinical neurology and neurosurgery 2016; (147()):78-83.

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Nambot S, Gavrilov D, Thevenon J, et al.

Clinical genetics 2017; (92(2)):188-198 doi:10.1111/cge.12985.

[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].

Schneider C, Danek A, Hostmann A, et al.

Fortschritte der Neurologie-Psychiatrie 2017; (85(5)):270-273 doi:10.1055/s-0042-123042.

Acute Systemic Complications of Convulsive Status Epilepticus-A Systematic Review.

Sutter R, Dittrich T, Semmlack S, et al.

Critical care medicine 2018; (46(1)):138-145 doi:10.1097/CCM.0000000000002843.

Neurons, Erythrocytes and Beyond -The Diverse Functions of Chorein.

Lang F, Pelzl L, Schöls L, et al.

Neuro-Signals 2017; (25(1)):117-126 doi:10.1159/000485457.

Progress in the Diagnosis and Management of Chorea-acanthocytosis.

Liu Y, Liu ZY, Wan XH, Guo Y

Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2018; (33(1)):53-59 doi:10.24920/21802.

VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites.

Kumar N, Leonzino M, Hancock-Cerutti W, et al.

The Journal of cell biology 2018; (217(10)):3625-3639 doi:10.1083/jcb.201807019.

Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.

Roulis E, Hyland C, Flower R, et al.

JAMA neurology 2018; (75(12)):1554-1562 doi:10.1001/jamaneurol.2018.2166.

Optimizing Texture Modified Foods for Oro-pharyngeal Dysphagia: A Difficult but Possible Target?

Sukkar SG, Maggi N, Travalca Cupillo B, Ruggiero C

Frontiers in nutrition 2018; (5()):68 doi:10.3389/fnut.2018.00068.

Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome.

Walker RH, Miranda M, Jung HH, Danek A

Parkinsonism & related disorders 2019; (60()):158-161 doi:10.1016/j.parkreldis.2018.09.003.

VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation.

Muñoz-Braceras S, Tornero-Écija AR, Vincent O, Escalante R

Disease models & mechanisms 2019; (12(2)) doi:10.1242/dmm.036681.

Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

Nagy A, Noyce A, Velayos-Baeza A, et al.

Movement disorders clinical practice 2015; (2(2)):182-186 doi:10.1002/mdc3.12138.

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Schneider SA, Bird T

Movement disorders clinical practice 2016; (3(4)):342-354 doi:10.1002/mdc3.12312.

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.

Yeshaw WM, van der Zwaag M, Pinto F, et al.

eLife 2019; (8()).

Bone fractures from generalized convulsive seizures and status epilepticus-A systematic review.

Grzonka P, Rybitschka A, De Marchis GM, et al.

Epilepsia 2019; (60(5)):996-1004 doi:10.1111/epi.14738.

Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.

Nishida Y, Nakamura M, Urata Y, et al.

Neurology. Genetics 2019; (5(3)):e332 doi:10.1212/NXG.0000000000000332.

Neuroacanthocytosis: a case report of chorea-acanthocytosis.

Xiang Y, Li S, Liu X, et al.

Journal of integrative neuroscience 2019; (18(2)):197-201 doi:10.31083/j.jin.2019.02.165.

Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis.

Richard A, Hsu J, Baum P, et al.

Case reports in neurology 2019; (11(2)):199-204 doi:10.1159/000500951.

Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings.

Suzuki F, Sato N, Sugiyama A, et al.

Journal of neuroradiology = Journal de neuroradiologie 2021; (48(6)):419-424 doi:10.1016/j.neurad.2019.11.006.

Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.

Spieler D, Velayos-Baeza A, Mühlbäck A, et al.

Molecular genetics & genomic medicine 2020; (8(9)):e1179 doi:10.1002/mgg3.1179.

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.

Niemelä V, Salih A, Solea D, et al.

Neurology. Genetics 2020; (6(3)):e426 doi:10.1212/NXG.0000000000000426.

Generalized convulsive status epilepticus after retrograde type A aortic dissection surgery.

Li Y, Wu Q, Shi H, et al.

Perfusion 2021; (36(3)):318-321 doi:10.1177/0267659120943158.

Sensitivity and Specificity of Bedside Screening Tests for Detection of Aspiration in Patients Admitted to a Public Rehabilitation Hospital.

Velasco LC, Imamura R, Rêgo APV, et al.

Dysphagia 2021; (36(5)):821-830 doi:10.1007/s00455-020-10198-9.

"Neuroacanthocytosis" - Overdue for a Taxonomic Update.

Walker RH, Danek A

Tremor and other hyperkinetic movements (New York, N.Y.) 2021; (11()):1 doi:10.5334/tohm.583.

Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification.

Darras A, Peikert K, Rabe A, et al.

Cells 2021; (10(4)) doi:10.3390/cells10040788.

Chorea-acanthocytosis: A Case Report with Review of Oral Manifestations.

Urs AB, Augustine J, Khan AA

Contemporary clinical dentistry 2021; (12(1)):73-75 doi:10.4103/ccd.ccd_207_20.

Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.

Peikert K, Glaß H, Federti E, et al.

Journal of personalized medicine 2021; (11(5)) doi:10.3390/jpm11050392.

Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome.

Quick S, Heidrich FM, Winkler MV, et al.

Parkinsonism & related disorders 2021; (88()):90-95 doi:10.1016/j.parkreldis.2021.05.015.

Orofacial manifestations of chorea-acanthocytosis: case presentation and literature review.

Zamora JG, Rivera C, Utsman R, Klasser GD

Quintessence international (Berlin, Germany : 1985) 2022; (53(3)):270-276 doi:10.3290/j.qi.b2407809.

Deep brain stimulation for chorea-acanthocytosis: a systematic review.

Wu Y, Xu YY, Gao Y, et al.

Neurosurgical review 2022; (45(3)):1861-1871 doi:10.1007/s10143-022-01735-1.

Two case reports of chorea-acanthocytosis and review of literature.

Huang S, Zhang J, Tao M, et al.

European journal of medical research 2022; (27(1)):22 doi:10.1186/s40001-022-00646-7.

Neurogenic Dysphagia and Nutrition in Disorder of Consciousness: An Overview with Practical Advices on an "Old" but Still Actual Clinical Problem.

Raciti L, Raciti G, Pulejo G, et al.

Medicines (Basel, Switzerland) 2022; (9(2)) doi:10.3390/medicines9020016.

XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.

Peikert K, Hermann A, Danek A

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie 2022; (49(1)):4-12 doi:10.1159/000521417.

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data.

He W, Li C, Dong H, et al.

Journal of movement disorders 2022; (15(3)):197-205 doi:10.14802/jmd.22003.

Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report.

Chen X, Zhang P, Wang L, Zhang Y

BMC neurology 2023; (23(1)):350 doi:10.1186/s12883-023-03398-x.

Proceedings of the Eleventh International Meeting on Neuroacanthocytosis Syndromes.

Kaestner L

Tremor and other hyperkinetic movements (New York, N.Y.) 2023; (13()):41 doi:10.5334/tohm.826.

A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.

Jin S, Sun Z, Fang X, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(5)):2057-2061 doi:10.1007/s10072-023-07174-0.

Preserved VPS13A distribution and expression in Huntington's disease: divergent mechanisms of action for similar movement disorders?

García-García E, Carreras-Caballé M, Coll-Manzano A, et al.

Frontiers in neuroscience 2024; (18()):1394478 doi:10.3389/fnins.2024.1394478.

Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage.

Wang M, Li H, Zhou Q, et al.

Frontiers in neurology 2024; (15()):1352467 doi:10.3389/fneur.2024.1352467.

A Man With Progressive Chorea and Abnormal Trunk Movements.

Sugumaran R, Bhuvaneswaran R

Cureus 2024; (16(6)):e62004 doi:10.7759/cureus.62004.

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.

Paucar M, Wincent J, Rubin C, et al.

Frontiers in neuroscience 2024; (18()):1409366 doi:10.3389/fnins.2024.1409366.

Aspiration after Critical Illness: Role of Endotracheal Tube, Tracheostomy, and Swallowing Disorders.

Osorio B, Krakora R, Epping G, et al.

Seminars in respiratory and critical care medicine 2024; (45(6)):669-677 doi:10.1055/a-2445-9054.

Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing: Case Report.

Hoe RHM, Zhao Y, Ong HL, et al.

Neurology. Genetics 2024; (10(6)):e200207 doi:10.1212/NXG.0000000000200207.

[Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)].

Oner OG, Varoglu AO

Ideggyogyaszati szemle 2025; (78(1-2)):69-72 doi:10.18071/isz.78.0069.

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.

Cloos AS, Ghodsi M, Stommen A, et al.

Frontiers in physiology 2025; (16()):1543812 doi:10.3389/fphys.2025.1543812.

Clinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India.

Saibaba J, Narayan SK, Sugumaran R, et al.

Parkinsonism & related disorders 2025; (137()):107917 doi:10.1016/j.parkreldis.2025.107917.

The Diverse Neuromuscular Spectrum of VPS13A Disease.

Buchberger A, Riedel E, Hackenberg M, et al.

Annals of clinical and translational neurology 2026; (13(1)):157-169 doi:10.1002/acn3.70198.

A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.

Salmanian M, Mohammadian F, Alizadeh F

Neurogenetics 2025; (26(1)):74 doi:10.1007/s10048-025-00855-2.

A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.

Perrone B, Mosca V, Pecoraro M, et al.

International journal of molecular sciences 2025; (26(23)) doi:10.3390/ijms262311521.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Vacca F, Yalcin B, Kaestner L, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2026; (16()):3 doi:10.5334/tohm.1124.

Neuronal VPS13A depletion links diacylglycerol PKC signaling and synaptic spines.

Besa-Selva G, García-García E, Ramón-Lainez A, et al.

BMC biology 2026; (24(1)).

Chorea-Acanthocytosis: From Motor to Behavioral and Olfactory Profiles.

Amini E, Rohani M, Jafarabadi Ashtiani A, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2026; 1-9 doi:10.1017/cjn.2026.10624.

Neuropathy-predominant and hyperkinetic-dystonic presentations in two siblings with a homozygous VPS13A variant: long-term follow-up and family-based clinical analysis.

Luo Y, Chen J, Ling T, et al.

BMC neurology 2026; doi:10.1186/s12883-026-05170-3.

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.

Ouskri A, Bouhda N, Khaissidi K, et al.

Neurogenetics 2026; (27(1)).