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Front Neurosci 2022 6;16:913401. Epub 2022 Jun 6.

Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Background: Neuroacanthocytosis (NA) and Huntington's disease (HD) are neurodegenerative conditions that share clinical symptoms and imaging findings, despite their distinct genetic etiologies. Usually, the presence of acanthocytes can help narrow the differential diagnosis of a familial choreiform disorder, as the diagnosis of NA syndrome is supported by the presence of acanthocytes in peripheral blood. In this study, we demonstrate four patients who present with HD and acanthocytosis. Read More

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

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

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

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

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

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

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.

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

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

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

Transfusion 2021 03 10;61(3):E28-E30. Epub 2021 Feb 10.

Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan.

Tremor Other Hyperkinet Mov (N Y) 2021 01 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

J Clin Immunol 2020 07 19;40(5):752-762. Epub 2020 Jun 19.

Pediatric Immuno-Hematology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades University Hospital, Paris, France.

Background: X-linked chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the CYBB gene (located on Xp21.1). Patients with large deletions on chromosome Xp21. 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.

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

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