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Mov Disord Clin Pract 2018 May-Jun;5(3):333-336. Epub 2018 Apr 6.

Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine 3-9 Fukuura, Kanazawa-ku Yokohama, 236-0004 Japan.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):223-224. Epub 2018 Feb 15.

Movement Disorder Division, Neurology Department New York University School of Medicine New York New York USA.

Medicine (Baltimore) 2019 Jan;98(2):e14050

Department of Neurology, The First Hospital, Jilin University, Changchun, China.

Rationale: Neuroacanthocytosis (NA) is a heterogeneous group of inherited neurodegenerative disorders characterized by misshapen spiculated erythorcytes and symptoms that resemble Huntington's disease.

Patient Concerns: A 59-year-old female who developed hyperkinetic involuntary movements that became progressively more obvious during the course of a year.

Diagnoses: Acanthocytes were observed in a peripheral blood smear. Read More

Tremor Other Hyperkinet Mov (N Y) 2018 26;8:604. Epub 2018 Oct 26.

Department of Neurology, National Neuroscience Centre, Cork University Hospital, Cork, IE.

Tremor Other Hyperkinet Mov (N Y) 2018 17;8:579. Epub 2018 Jul 17.

Parkinsonism Relat Disord 2018 Sep 26. Epub 2018 Sep 26.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address:

Stereotact Funct Neurosurg 2018 28;96(4):276. Epub 2018 Aug 28.

Department of Neurosurgery, Jaslok Hospital and Research Centre, Mumbai, India.

JAMA Neurol 2018 Dec;75(12):1554-1562

Blood Transfusion Service Zurich, Swiss Red Cross, Schlieren/Zürich, Switzerland.

Importance: McLeod syndrome, encoded by the gene XK, is a rare and progressive disease that shares important similarities with Huntington disease but has widely varied neurologic, neuromuscular, and cardiologic manifestations. Patients with McLeod syndrome have a distinct hematologic presentation with specific transfusion requirements. Because of its X-linked location, loss of the XK gene or pathogenic variants in this gene are principally associated with the McLeod blood group phenotype in male patients. Read More

Mol Cell Neurosci 2018 10 3;92:137-148. Epub 2018 Aug 3.

Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany; Center for Regenerative Therapies Dresden (CRTD), Technische Universität Dresden, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany; Universitäts Centrum für seltene Erkrankungen, Technische Universität Dresden, Dresden, Germany. Electronic address:

Mutations in the VPS13A gene leading to depletion of chorein protein are causative for Chorea Acanthocytosis (ChAc), a rare devastating disease, which is characterized by neurodegeneration mainly affecting the basal ganglia as well as deformation of erythrocytes. Studies on patient blood samples highlighted a dysregulation of Actin cytoskeleton caused by downregulation of the PI3K pathway and hyper-activation of Lyn-kinase, but to what extent these mechanisms are present and relevant in the affected neurons remains elusive. We studied the effects of the absence of chorein protein on the morphology and trafficking of lysosomal and mitochondrial compartments in ChAc patient-specific induced pluripotent stem cell-derived medium spiny neurons (MSNs). Read More

Front Med (Lausanne) 2018 16;5:198. Epub 2018 Jul 16.

Department of Biochemistry, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

The structure of red blood cells is affected by many inborn and acquired factors, but in most cases this does not seem to affect their function or survival in physiological conditions. Often, functional deficits become apparent only when they are subjected to biochemical or mechanical stress , or to pathological conditions . Our data on the misshapen red blood cells of patients with neuroacanthocytosis illustrate this general mechanism: an abnormal morphology is associated with an increase in the susceptibility of red blood cells to osmotic and mechanical stress, and alters their rheological properties. Read More

Biochem Biophys Res Commun 2018 09 21;503(2):915-920. Epub 2018 Jun 21.

Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan.

Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis caused by loss-of-function mutations in the Vacuolar Protein Sorting 13 Homolog A (VPS13A) gene, which encodes chorein. We previously produced a ChAc-model mouse with a homozygous deletion of exons 60-61 in Vps13a, which corresponded to the human disease mutation. We found that male ChAc-model mice exhibited complete infertility as a result of severely diminished sperm motility. Read More

Neuromodulation 2018 Dec 10;21(8):741-747. Epub 2018 Apr 10.

Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.

Introduction: Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disorder caused by the mutation of gene VPS13A. Deep brain stimulation of ChAc has made substantial progress in the recent decades. However, the reports were scattered across centers and performed by different neurosurgeons. Read More

Chin Med Sci J 2018 Mar;33(1):53-59

Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.

Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders. It is thought to be caused by VPS13A mutations. Characteristic movement disorders in ChAc is choreiform movements affecting both trunk and extremities and prominent orolingual dyskinesia is pathognomonic. Read More

Neurol India 2018 Mar-Apr;66(Supplement):S157-S160

Department of General Medicine, District Hospital, Howrah, Kolkata, West Bengal, India.

Parkinsonism Relat Disord 2018 04 20;49:17-21. Epub 2017 Dec 20.

Neurology Department, Hospital Ramón y Cajal, Madrid, Spain; Instituto Ramón y Cajal de Investigación IRICYS, Spain.

Eur J Med Genet 2018 Nov 16;61(11):699-705. Epub 2017 Dec 16.

Division for Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, 01307 Dresden, Germany; DZNE, German Centre for Neurodegenerative Diseases, Research Site Dresden, 01307 Dresden, Germany. Electronic address:

Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. This clinically and genetically heterogeneous group of diseases shares main clinical features presenting most often as a hyperkinetic movement disorder. Even though these are long noted disease conditions, we still know only little on the underlying disease mechanisms. Read More

Eur J Nucl Med Mol Imaging 2018 03 15;45(3):511-512. Epub 2017 Dec 15.

Nuclear Medicine Department, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.

Tremor Other Hyperkinet Mov (N Y) 2017 5;7:512. Epub 2017 Dec 5.

Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa.

Background: Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD).

Methods: We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Read More

Neurosignals 2017 28;25(1):117-126. Epub 2017 Nov 28.

Department of Biochemistry, University of Crete Medical School, Heraklion, Greece.

Chorea-acanthocytosis (ChAc), a neurodegenerative disease, results from loss-of-function-mutations of the chorein-encoding gene VPS13A. Affected patients suffer from a progressive movement disorder including chorea, parkinsonism, dystonia, tongue protrusion, dysarthria, dysphagia, tongue and lip biting, gait impairment, progressive distal muscle wasting, weakness, epileptic seizures, cognitive impairment, and behavioral changes. Those pathologies may be paralleled by erythrocyte acanthocytosis. Read More

Orv Hetil 2017 Oct;158(42):1681-1684

Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.

In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the position 1301. This change is a known pathogenic mutation. Read More

Transfusion 2017 10;57(10):2307-2308

Department of Transfusion Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, Maryland.

J Neurosurg Anesthesiol 2018 Oct;30(4):382-383

Department of Neuroanaesthesia and Neurocritical Care, National Institute of Mental Health and Neurosciences Bangalore, Karnataka, India.

Traffic 2017 11 24;18(11):711-719. Epub 2017 Sep 24.

Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.

Human Vps13 proteins are associated with several diseases, including the neurodegenerative disorder Chorea-acanthocytosis (ChAc), yet the biology of these proteins is still poorly understood. Studies in Saccharomyces cerevisiae, Dictyostelium discoideum, Tetrahymena thermophila and Drosophila melanogaster point to the involvement of Vps13 in cytoskeleton organization, vesicular trafficking, autophagy, phagocytosis, endocytosis, proteostasis, sporulation and mitochondrial functioning. Recent findings show that yeast Vps13 binds to phosphatidylinositol lipids via 4 different regions and functions at membrane contact sites, enlarging the list of Vps13 functions. Read More

Cell Physiol Biochem 2017 11;42(5):2066-2077. Epub 2017 Aug 11.

Department of Molecular Medicine II, Heinrich Heine University Duesseldorf, Duesseldorf, Germany.

Background: The widely expressed protein chorein fosters activation of the phosphoinositide 3 kinase (PI3K) pathway thus supporting cell survival. Loss of function mutations of the chorein encoding gene VPS13A (vacuolar protein sorting-associated protein 13A) causes chorea-acanthocytosis (ChAc), a neurodegenerative disorder paralleled by deformations of erythrocytes. In mice, genetic knockout of chorein leads to enhanced neuronal apoptosis. Read More

Neurosci Lett 2017 Jul 20;654:107-110. Epub 2017 Jun 20.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University of Naples, Via S. Pansini, 5 IT-80131 Napoli, Italy.

Chorea-acanthocytosis (Ch-Ac) is an autosomal recessive neurodegenerative disorder characterized by adult-onset chorea, acanthocytes in the peripheral blood, and Huntington's disease-like neuropsychiatric symptoms. Animal studies have shown mutation-related dysregulated cortical gamma-aminobutyric acid (GABA)ergic inhibitory networks in its pathophysiology. Herein we found that in patients with Ch-Ac there is a striking alteration of intracortical inhibitory circuits detected by using paired pulse transcranial magnetic stimulation protocols. Read More

Fortschr Neurol Psychiatr 2017 May 23;85(5):270-273. Epub 2017 May 23.

Klinik für Neurologie, Heilig Geist-Krankenhaus, Köln.

Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. Read More

Transfusion 2017 09 28;57(9):2125-2135. Epub 2017 May 28.

Blood Transfusion Service Zürich, Swiss Red Cross (SRC), Zürich-Schlieren, Switzerland.

Background: McLeod syndrome (MLS) is hematologically defined by the absence of the red blood cell (RBC) antigen Kx on the transmembrane RBC protein, XK, representing a highly specific diagnostic marker. Direct molecular assessment of XK therefore represents a desirable diagnostic tool. Whereas pathogenic point mutations may be simply identified, partial and complete deletions of XK on Xp21. Read More

Parkinsonism Relat Disord 2017 08 17;41:124-126. Epub 2017 May 17.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

J Assoc Physicians India 2017 Apr;65(4):93-94

Senior Resident.

Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. Read More

J Assoc Physicians India 2017 Mar;65(3):92-94

Professor, Coimbatore Medical College, Coimbatore, Tamil Nadu.

Neuroacanthocytosis is a genetic neurodegenerative disorder with syndromes of variable inheritance. These hyperkinetic movement disorders are reported to be very rare. It is associated with choreiform movements, orofacial and lingual dyskinesias and acanthocytes on peripheral smear and normolipoproteinemia. Read More

Neuropathol Appl Neurobiol 2017 10;43(6):542-546

Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.

Hum Mol Genet 2017 04;26(8):1497-1510

Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106 Warsaw, Poland.

The rare human disorder chorea-acanthocytosis (ChAc) is caused by mutations in hVPS13A gene. The hVps13A protein interacts with actin and regulates the level of phosphatidylinositol 4-phosphate (PI4P) in the membranes of neuronal cells. Yeast Vps13 is involved in vacuolar protein transport and, like hVps13A, participates in PI4P metabolism. Read More

Blood Cells Mol Dis 2017 05 7;64:15-22. Epub 2017 Mar 7.

Department of Medical Biochemistry, Max F. Perutz Laboratories, Medical University of Vienna, Vienna, Austria. Electronic address:

Recent studies on erythrocyte membrane fluctuations revealed that the erythrocyte cytoskeleton actively modulates its membrane association thereby regulating crucial membrane properties. Cationic amphiphilic drugs like chlorpromazine are known to induce a cup-like cell shape and vesicle formation into the cell interior, effectors of this process, however, are largely unknown. Using flow cytometry, this study explored conditions that influence endovesiculation induced by chlorpromazine. Read More

Cell Physiol Biochem 2017 7;41(3):1267-1268. Epub 2017 Mar 7.

Tremor Other Hyperkinet Mov (N Y) 2017 15;7:428. Epub 2017 Feb 15.

Department of Neurology, University of Michigan, Ann Arbor, MI, USA; Neurology Service, VAAAHS, University of Michigan, Ann Arbor, MI, USA; Udall Centre, University of Michigan, Ann Arbor, MI, USA; GRECC, VAAAHS, University of Michigan, Ann Arbor, MI, USA,; Michigan Alzheimer's Disease Center, University of Michigan, Ann Arbor, MI, USA.

Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on molecular mechanisms driving ChAc pathophysiology. Read More

J Neurol Sci 2017 Feb 7;373:346. Epub 2016 Dec 7.

Boston University School of Medicine, 72 E. Concord Street, Boston, MA 02118, United States.

J Neurol Sci 2017 Feb 5;373:347. Epub 2016 Dec 5.

Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany.

J Neurosci 2016 11;36(47):12027-12043

Department of Neurology and

Chorea-acanthocytosis (ChAc) is a fatal neurological disorder characterized by red blood cell acanthocytes and striatal neurodegeneration. Recently, severe cell membrane disturbances based on depolymerized cortical actin and an elevated Lyn kinase activity in erythrocytes from ChAc patients were identified. How this contributes to the mechanism of neurodegeneration is still unknown. Read More

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:12-13. Epub 2016 Nov 21.

Hôpital Marin, Centre GNMH, FILNEMUS, Hendaye, France.

Pan Afr Med J 2016 29;24:172. Epub 2016 Jun 29.

Service de Réanimation Médicale, Pôle Anesthésie-Réanimation, Hôpital Militaire Med V, Rabat, Maroc.

Chorea-acanthocytosis (ChAc) is an extremely rare autosomal recessive disorder caused by mutations in the VSP13A gene on chromosome 9q21. It is characterized by neurological symptoms, psychiatric manifestations and multisystem involvement resulting in myopathy, axonal neuropathy and presence of spiculated red blood cells or acanthocytes. Rarely, epilepsy may be the early symptom in these patients. Read More

J Neurol Sci 2016 11 9;370:55-56. Epub 2016 Sep 9.

Boston University School of Medicine, 72 E. Concord Street, Boston, MA 02118, United States.

Blood 2016 12 14;128(25):2976-2987. Epub 2016 Oct 14.

Department of Medicine, University of Verona and Azienda ospedaliera Universitaria Integrata di Verona, Verona, Italy.

Chorea-acanthocytosis is one of the hereditary neurodegenerative disorders known as the neuroacanthocytoses. Chorea-acanthocytosis is characterized by circulating acanthocytes deficient in chorein, a protein of unknown function. We report here for the first time that chorea-acanthocytosis red cells are characterized by impaired autophagy, with cytoplasmic accumulation of active Lyn and of autophagy-related proteins Ulk1 and Atg7. Read More

Arq Neuropsiquiatr 2016 Sep;74(9):761-766

Universidade Federal de Minas Gerais, Departamento de Medicina Interna, Serviço de Neurologia, Belo Horizonte MG, Brasil.

Chorea is an abnormal movement characterized by a continuous flow of random muscle contractions. This phenomenon has several causes, such as infectious and degenerative processes. Chorea results from basal ganglia dysfunction. Read More

Clin Neurol Neurosurg 2016 Aug 1;147:78-83. Epub 2016 Jun 1.

Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland; Neurological and Psychiatric Nursing Department, Medical University of Gdansk, Gdansk, Poland.

Objective: To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes.

Methods: We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o. Read More

Mol Biol Cell 2016 08 8;27(15):2435-49. Epub 2016 Jun 8.

Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794-5215

The Vps13 protein family is highly conserved in eukaryotic cells. Mutations in human VPS13 genes result in a variety of diseases, such as chorea acanthocytosis (ChAc), but the cellular functions of Vps13 proteins are not well defined. In yeast, there is a single VPS13 orthologue, which is required for at least two different processes: protein sorting to the vacuole and sporulation. Read More

Expert Rev Neurother 2016 09 10;16(9):1067-78. Epub 2016 Jun 10.

e Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital , University Health Network , Toronto , Canada.

Introduction: Deep brain stimulation effectiveness is well recognized for different movement disorders including Parkinson's disease, dystonia and essential tremor, however several other diseases in this field may benefit from the technique although experience is sparse and evidences of benefit and risks are not established.

Areas Covered: In this review, we explored available evidence for effectiveness and safety of DBS in selected hyperkinetic movement disorders, including tardive dyskinesia, Huntington's disease, neuroacanthocytosis, myoclonus-dystonia, Tourette syndrome, orthostatic and Holmes' tremor. Expert commentary: The data referenced and discussed showed potential effectiveness for DBS in these disabling and refractory diseases. Read More

Med Hypotheses 2016 Apr 6;89:21-3. Epub 2016 Feb 6.

Department of Neurology, University Hospital Knappschaftskrankenhaus Bochum, Ruhr-University Bochum, Germany.

Postoperative encephalopathy with choreoathetosis ("postpump chorea") is a rare complication of open-heart surgery and, in particular, the employment of a cardiopulmonary bypass pump. It almost exclusively occurs in young children. While risk factors and the underlying histopathology have been identified, the pathogenesis of postpump chorea, crucially, remains largely unknown. Read More

Int Med Case Rep J 2016 23;9:39-42. Epub 2016 Feb 23.

Department of Neurosurgery, National Institute of Neurological and Allied Sciences, Kathmandu, Nepal.

Neuroacanthocytosis is a group of rare disorders. We report a 36-year-old right-handed female who presented with gradually progressive abnormal facial movements, generalized weakness, and lower-lip biting starting 4 years ago. On examination, she had lower-lip ulcer, orofacial dyskinesias, and peripheral neuropathy. Read More

Biochem Biophys Res Commun 2016 Mar 24;472(1):118-24. Epub 2016 Feb 24.

Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.

Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene. We previously produced a ChAc model mice encoding a human disease mutation with deletion of exons 60-61 in the VPS13A gene. The behavioral and pathological phenotypes of the model mice varied a good deal from individual to individual, indicating that differences between individuals may be caused by the content of a genetic hybrid 129/Sv and C57BL/6J strain background. Read More