Search Our Scientific Publications & Authors

J Pers Med 2021 May 10;11(5). Epub 2021 May 10.

Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.

Chorea-acanthocytosis (ChAc) is a neurodegenerative disease caused by mutations in the gene. It is characterized by several neurological symptoms and the appearance of acanthocytes. Elevated tyrosine kinase Lyn activity has been recently identified as one of the key pathophysiological mechanisms in this disease, and therefore represents a promising drug target. Read More

Tremor Other Hyperkinet Mov (N Y) 2021 May 21;11:19. Epub 2021 May 21.

Dept. Biomedical Sciences, Institute of Neurosciences, School of Medicine and Health Sciences, Universitat de Barcelona, Barcelona, Spain.

The 10th International Meeting on Neuroacanthocytosis Syndromes was held online on March 10th12th, 2021. The COVID19 pandemic situation made our planned meeting in Barcelona on March 2020 to be suspended by one year, and finally took place online. The meeting followed the previous nine international symposia, the last of which was held in Dresden, Germany in March, 2018. Read More

Cells 2021 Apr 2;10(4). Epub 2021 Apr 2.

Experimental Physics, Saarland University, 66123 Saarbruecken, Germany.

(1) Background: Chorea-acanthocytosis and McLeod syndrome are the core diseases among the group of rare neurodegenerative disorders called neuroacanthocytosis syndromes (NASs). NAS patients have a variable number of irregularly spiky erythrocytes, so-called acanthocytes. Their detection is a crucial but error-prone parameter in the diagnosis of NASs, often leading to misdiagnoses. Read More

Genes (Basel) 2021 Feb 26;12(3). Epub 2021 Feb 26.

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the and genes to search for causative mutations. Read More

Tremor Other Hyperkinet Mov (N Y) 2021 Jan 11;11. Epub 2021 Jan 11.

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

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". Read More

Parkinsonism Relat Disord 2020 11 7;80:28-31. Epub 2020 Sep 7.

Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany; DZNE, German Center for Neurodegenerative Diseases, Research Site Rostock/Greifswald, Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany. Electronic address:

Introduction: Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease, characterized by hyper- and hypokinetic movement disorders, peripheral neuropathy and acanthocytosis. Biomarkers are not established; possible candidates include neurofilament reflecting neuroaxonal damage.

Methods: We studied serum neurofilament light chain (sNfL) of six ChAc patients compared to two healthy control cohorts (A, six age/sex matched and B, historical cohort of 59 healthy adult subjects) and in two patients with the very similar condition of McLeod syndrome (MLS), the second core syndrome of neuroacanthocytosis. Read More

Mol Biol Cell 2020 10 26;31(22):2425-2436. Epub 2020 Aug 26.

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

Vps13 is a highly conserved lipid transfer protein found at multiple interorganelle membrane contact sites where it mediates distinct processes. In yeast, recruitment of Vps13 to different contact sites occurs via various partner proteins. In humans, four VPS13 family members, A-D, are associated with different diseases. Read More

Clin Neurol Neurosurg 2020 10 3;197:106122. Epub 2020 Aug 3.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Germany.

Herein we report on a patient acutely admitted to the emergency room due to malaise and effort intolerance. A heart ultrasound, a cardiovascular MRI and an endomyocardial biopsy were suggestive of myocarditis. With appropriate medications the ejection fraction (EF) slowly improved but follow-up blood examinations revealed a hyperckemia. Read More

Biochim Biophys Acta Biomembr 2020 09 11;1862(9):183349. Epub 2020 May 11.

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

Chorein is a protein of the Vps13 family, and defects in this protein cause the rare neurodegenerative disorder chorea-acanthocytosis (ChAc). Chorein is involved in the actin cytoskeleton organization, calcium ion flux, neuronal cell excitability, exocytosis and autophagy. The function of this protein is poorly understood, and obtaining this knowledge is a key to finding a cure for ChAc. Read More

Mov Disord Clin Pract 2020 Apr 3;7(3):340-342. Epub 2020 Mar 3.

Department of Neurology Massachusetts General Hospital Boston Massachusetts USA.

Int J Mol Sci 2020 Mar 5;21(5). Epub 2020 Mar 5.

Section for Translational Neurodegeneration "Albrecht Kossel", Department of Neurology, Universitätsmedizin Rostock, 18057 Rostock, Germany.

Chorea acanthocytosis (ChAc), an ultra-rare devastating neurodegenerative disease, is caused by mutations in the gene, which encodes for the protein chorein. Affected patients suffer from chorea, orofacial dyskinesia, epilepsy, parkinsonism as well as peripheral neuropathy. Although medium spinal neurons of the striatum are mainly affected, other regions are impaired as well over the course of the disease. Read More

BMC Med Genet 2020 03 4;21(1):47. Epub 2020 Mar 4.

Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Background: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance.

Case Presentation: Here we report two patients belonging to a consanguineous Moroccan family who present with movement disorder pathology. Read More

Neurol India 2020 Jan-Feb;68(1):206-208

Division of Neurology, Department of Internal Medicine, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan.

J Neurol Sci 2020 05 20;412:116731. Epub 2020 Feb 20.

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Japan.

Mol Genet Genomic Med 2020 09 14;8(9):e1179. Epub 2020 Feb 14.

Neurologische Klinik und Poliklinik, Ludwigs-Maximilians Universität München, Munich, Germany.

Background: Chorea-acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic genomic DNA (gDNA) sequencing approaches are widely used. However, their limitations appear not to be acknowledged thoroughly enough. Read More

Neurol Sci 2020 Jun 14;41(6):1623-1625. Epub 2020 Jan 14.

Department of Neurology, RuiJin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

BMC Neurol 2019 Nov 27;19(1):301. Epub 2019 Nov 27.

Department of Neurology, Fukushima Medical University, Fukushima, Japan.

Background: McLeod syndrome is a rare X-linked recessive acanthocytosis associated with neurological manifestations including progressive chorea, cognitive impairment, psychiatric disturbances, seizures, and sensorimotor axonal polyneuropathy. However, no studies have investigated the functioning of central sensorimotor tracts in patients with McLeod syndrome.

Case Presentation: A 66-year-old man had experienced slowly progressive chorea and gait disturbance due to lower limb muscle weakness since his early fifties. Read More

J Neurol Sci 2020 01 31;408:116555. Epub 2019 Oct 31.

Department of Clinical Genetics, Helsinki University Hospital, Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

J Neurol Sci 2020 Jan 21;408:116545. Epub 2019 Oct 21.

Department of Radiology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.

Background And Purpose: Chorea-acanthocytosis is clinically difficult to distinguish from Huntington's disease because these disorders have similar symptoms and MR imaging findings. We evaluated the usefulness of single-case voxel-based morphometry (VBM) analysis for differentiating the two diseases as well as VBM analysis.

Materials And Methods: We examined five genetically proven chorea-acanthocytosis patients and 11 Huntington's disease patients to detect differences in the gray and white matter atrophic pattern by using single-case VBM analysis in each patient and their clinical findings. Read More

Tremor Other Hyperkinet Mov (N Y) 2019 21;9. Epub 2019 Aug 21.

Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, IN.

Background: Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington's disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson's disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations. Read More

Pediatr Neurol 2020 02 13;103:76-78. Epub 2019 Jun 13.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome.

Method: We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. Read More

Continuum (Minneap Minn) 2019 Aug;25(4):1001-1035

Purpose Of Review: This article provides an overview of the approach to chorea in clinical practice, beginning with a discussion of the phenomenologic features of chorea and how to differentiate it from other movement disorders. The diagnostic approach, clinical features of important acquired and genetic choreas, and therapeutic principles are also discussed. Practical clinical points and caveats are included. Read More

J Integr Neurosci 2019 06;18(2):197-201

Department of Orthopaedics, Shandong Provincial Hospital Affiliated to Shandong University, No. 324 JingWu Road, 250021, Jinan, Shandong, P. R. China.

Neuroacanthocytosis is a rare progressive neurodegenerative disease, including Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, and pantothenate kinase-associated neurodegeneration, where Chorea-acanthocytosis occupies the main entity of this disease group. Here, a classic case of Chorea-acanthocytosis is reported that exhibited gradually deteriorating abnormal movements of limbs and face, swallowing difficulty, and lip and cheek biting for the past two years. Peripheral blood smears revealed that 35% of the red blood cells were acanthocytes and electron microcopy scans clearly showed the morphology of acanthocytes. Read More

Clin Neurol Neurosurg 2019 Sep 12;184:105421. Epub 2019 Jul 12.

Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

McLeod syndrome (MLS) is a rare multisystem disorder and X-linked recessive inheritance disorder caused by mutations of the X-linked Kx blood group (XK) gene. The manifestations progress slowly and mainly appear in middle age, which make it difficult to distinguish MLS from other neuromuscular disorders. Here, we present a case of a 10-month-old Chinese boy who was taken to hospital for herpes of the extremities and oral cavity along with febrile seizures in June 2017. Read More

Parkinsonism Relat Disord 2019 07 2;64:293-299. Epub 2019 May 2.

Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA; Department of Neurology, Mount Sinai School of Medicine, New York City, NY, USA.

Objective: To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mutations.

Methods: This is a multi-center retrospective review of five MLS cases with novel gene mutations. Genotypic and phenotypic information has been obtained from each center. Read More

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.