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Front Physiol 2022 27;13:884690. Epub 2022 Apr 27.

Experimental Physics, Saarland University, Saarbruecken, Germany.

In many medical disciplines, red blood cells are discovered to be biomarkers since they "experience" various conditions in basically all organs of the body. Classical examples are diabetes and hypercholesterolemia. However, recently the red blood cell distribution width (RDW), is often referred to, as an unspecific parameter/marker (e. Read More

Int J Mol Sci 2022 May 4;23(9). Epub 2022 May 4.

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

Mutations in human genes result in rare neurological diseases, including chorea-acanthocytosis. The pathogenesis of these diseases is poorly understood, and no effective treatment is available. As genes are evolutionarily conserved, the effects of the pathogenic mutations could be studied in model organisms, including yeast, where one gene is present. Read More

Medicine (Baltimore) 2022 Mar 11;101(10):e28996. Epub 2022 Mar 11.

Department of Neurology, The First Affiliated Hospital of Dalian Medical University, Dalian, China.

Rationale: McLeod syndrome (MLS) is a rare X-linked neurohematologic disorder caused by loss-of-function mutations in the XK gene. However, variations in the XK gene remain to be elucidated. Here, we report the clinical phenotype and genetic features of a patient with MLS caused by a novel frameshift mutation in the XK gene. Read More

Transfus Med Hemother 2022 Feb 25;49(1):4-12. Epub 2022 Jan 25.

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

Background: McLeod syndrome (MLS) is an X-linked multisystemic progressive disorder caused by loss of function mutations in the gene. The rare blood group phenotype of MLS patients with absent Kx antigen requires the support of specialized transfusion institutions because of the risk of transfusion complications. Acanthocytosis of red blood cells occurs in almost all patients. Read More

Eur J Med Res 2022 Feb 7;27(1):22. Epub 2022 Feb 7.

Department of Neurology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.

Background: Chorea-acanthocytosis (ChAc), as the most common subtype of neuroacanthocytosis syndrome, is characterized by the presence of acanthocytes and neurological symptoms. It is thought to be caused by the VPS13A (vacuolar protein sorting-associated protein 13A) mutations. This article reports two confirmed cases of ChAc and summarizes some suggestive features, which provide direction for the diagnosis and treatment of acanthocytosis in the future. Read More

Lab Med 2022 Jan 24. Epub 2022 Jan 24.

Department of Laboratory Medicine, Chungbuk National University Hospital, Cheongju, Republic of Korea.

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants of the vacuolar protein sorting 13A (VPS13A). Only a few patients with ChAc have been reported to date, and the variant spectrum of VPS13A has not been completely elucidated. We describe the case of a 36-year-old woman who had been experiencing orofacial dyskinesia since age 30 years. Read More

Neurol India 2021 Nov-Dec;69(6):1848-1849

Department of Neurology, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, China.

Mov Disord 2022 03 16;37(3):644-646. Epub 2021 Dec 16.

Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, USA.

Quintessence Int 2022 Feb;53(3):270-276

Chorea-acanthocytosis is a rare neurological disorder that produces involuntary body movements, along with a condition of misshapen red blood cells that is characterized by appearing in early adulthood. There are numerous orofacial manifestations linked to chorea-acanthocytosis that the dental practitioner must consider in early and late stages of the disease, such as chronic oral ulcerations, chronic mouth grinding, difficulty swallowing, and biting the lip and tongue, among others. This case, the first to the authors' knowledge to address the area of orofacial pain, provides general signs and symptoms of the disorder and management following a multidisciplinary approach. Read More

Explore (NY) 2021 Nov 10. Epub 2021 Nov 10.

Department of Acupuncture and Moxibustion, The Third Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China. Electronic address:

Background: Chorea-acanthocytosis (ChAc) is the most common type of neuroacanthocytosis syndromes. Characteristic movement disorders of ChAc are choreiform movements affecting both trunk and extremities. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase, atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc. Read More

Neurol Sci 2022 Feb 22;43(2):1453-1455. Epub 2021 Nov 22.

Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, Viale Europa, 88100, Catanzaro, Italy.

Zh Nevrol Psikhiatr Im S S Korsakova 2021 ;121(9):104-110

Russian Medical Academy of Continuous Professional Education, Moscow, Russia.

Neuroacanthocytosis is a group of neurodegenerative diseases manifested by a combition of neurological symptoms (most often choreic hyperkinesis) and the presence of an increased number of acanthocytes (erythrocytes with horns) in the peripheral blood. This group includes chorea-acanthocytosis, MacLeod's syndrome, pantothenate kinase-associated neurodegeneration, Huntington-like disease type 2, and some other very rare diseases. This article presents a genetically confirmed clinical case of chorea-acanthocytosis associated with a compound mutation in the VPS13A gene, discusses in detail the stages of a diagnostic search, presents an algorithm for examining patients with chorea. Read More

Zhonghua Nei Ke Za Zhi 2021 Nov;60(11):997-998

Department of Neurology, Peking University Third Hospital, Beijing 100191, China.

Aerosp Med Hum Perform 2021 Sep;92(9):734-737

The following case report describes the first known case of McLeod Syndrome in a commercial airline pilot. The case describes a 56-yr-old experienced pilot who showed a slow and subtle decline in cognitive function and muscle control in the cockpit. On further examination, the pilots erratic behavior and movement along with lab abnormalities pointed toward McLeod Syndrome. Read More

Transfusion 2021 10 6;61(10):E69-E70. Epub 2021 Sep 6.

Immunohematology and Genomics Laboratory, New York Blood Center, New York, USA.

Cogn Behav Neurol 2021 09 2;34(3):207-211. Epub 2021 Sep 2.

Nuclear Medicine, Kyungpook National University Hospital, Daegu, South Korea.

McLeod syndrome is a rare X-linked recessive genetic disorder that is caused by mutations of the XK gene. It is one of the core neuroacanthocytosis syndromes. We report the case of a 67-year-old man who presented to Kyungpook National University Hospital in the Republic of Korea with progressive worsening of generalized chorea and dystonia. Read More

Mov Disord Clin Pract 2021 Aug 1;8(6):983-986. Epub 2021 Jul 1.

Department of Neurology National Institute of Mental Health and Neurosciences (NIMHANS) Bengaluru India.

CMAJ 2021 08;193(31):E1231-E1233

Academy of Medical Sciences (Denegri), Londres, R.-U.; Vocal - Research and Innovation (Starling), Manchester University NHS Foundation Trust; Manchester Biomedical Research Centre du National Institute for Health Research (NIHR) (Starling) et NIHR Manchester Clinical Research Facility (Starling), Manchester, Grand Manchester, R.-U.

J Neurosci Rural Pract 2021 Jul 10;12(3):581-585. Epub 2021 May 10.

Department of Neurology, Calcutta National Medical College & Hospital, Kolkata, West Bengal, India.

 Little data are available on the spectrum of movement disorders in inpatients, particularly those admitted in neurology specialty. This may be related to the fact that patients presenting with movement disorders are usually evaluated from outpatient clinics.  The aim of this study is to provide data on the pattern of movement disorders in neurology inpatients. Read More

CMAJ 2021 07;193(27):E1048-E1049

Academy of Medical Sciences (Denegri), London, UK; Vocal - Research and Innovation (Starling), Manchester University NHS Foundation Trust; National Institute for Health Research (NIHR) Manchester Biomedical Research Centre (Starling) and NIHR Manchester Clinical Research Facility (Starling), Manchester, Greater Manchester, UK.

Case Rep Neurol 2021 May-Aug;13(2):341-346. Epub 2021 Jun 11.

Department of Neurology, Michigan State University, East Lansing, Michigan, USA.

Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the (VPS13A) gene. We report a case of early onset parkinsonism and seizures in a 43-year-old male with a family history of NA. Read More

Parkinsonism Relat Disord 2021 07 24;88:90-95. Epub 2021 May 24.

Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center, University of Rostock, Rostock, Germany. Electronic address:

Introduction: We aimed to study the various cardiac manifestations of the two core neuroacanthocytosis (NA) syndromes, namely chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). So far, cardiac involvement has been described as specific feature only for MLS.

Methods: We studied six patients with ChAc (mean age 44. Read More

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

Biomolecules 2021 05 12;11(5). Epub 2021 May 12.

Theoretical Medicine and Biosciences, Saarland University, 66424 Homburg, Germany.

Background: Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease with deformed red blood cells (RBCs), so-called acanthocytes, as a typical marker of the disease. Erythrocyte sedimentation rate (ESR) was recently proposed as a diagnostic biomarker. To date, there is no treatment option for affected patients, but promising therapy candidates, such as dasatinib, a Lyn-kinase inhibitor, have been identified. Read More

Tremor Other Hyperkinet Mov (N Y) 2021 05 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

Acta Neuropathol Commun 2021 05 3;9(1):81. Epub 2021 May 3.

Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.

Chorea-Acanthocytosis (ChAc) is a devastating, little understood, and currently untreatable neurodegenerative disease caused by VPS13A mutations. Based on our recent demonstration that accumulation of activated Lyn tyrosine kinase is a key pathophysiological event in human ChAc cells, we took advantage of Vps13a mice, which phenocopied human ChAc. Using proteomic approach, we found accumulation of active Lyn, γ-synuclein and phospho-tau proteins in Vps13a basal ganglia secondary to impaired autophagy leading to neuroinflammation. Read More

Cells 2021 04 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 02 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