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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.

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 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:

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

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

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

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

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

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

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

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

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

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

Tremor Other Hyperkinet Mov (N Y) 2015 19;5:346. Epub 2015 Oct 19.

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.

Background: The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Read More

Immunohematology 2015 ;31(1):14-9

PhD, FCSMLS(D), Director of Immunohematology and Transfusion Services, Diagnostic Laboratories, Blood Center of Wisconsin, 638 N. 18th Street, PO Box 2178, Milwaukee, WI 53201-2178.

The Kell and Kx blood group systems are expressed as covalently linked molecules on red blood cells (RBCs). The Kell blood group system is very polymorphic, with 35 antigens assigned to the system. The expression of Kell glycoprotein on RBCs is not critical to the erythrocyte function. Read More

J Mov Disord 2015 May 31;8(2):41-54. Epub 2015 May 31.

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

There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here-chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, and pantothenate kinase- associated neurodegeneration. Read More

Autophagy 2015 ;11(6):918-27

a Instituto de Investigaciones Biomedicas Alberto Sols; Consejo Superior de Investigaciones Científicas and Universidad Autónoma de Madrid ; Madrid , Spain.

Deficient autophagy causes a distinct phenotype in Dictyostelium discoideum, characterized by the formation of multitips at the mound stage. This led us to analyze autophagy in a number of multitipped mutants described previously (tipA(-), tipB(-), tipC(-), and tipD(-)). We found a clear autophagic dysfunction in tipC(-) and tipD(-) while the others showed no defects. Read More

Transfus Apher Sci 2015 Jun 14;52(3):277-84. Epub 2015 Apr 14.

Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

Multisystem deterioration occurs mainly in older individuals and may be related to physiological tissue degeneration. However, genetic predisposition may be unmasked by inappropriate functional and structural system deficiencies. McLeod syndrome (MLS) is a rare, multisystem disease which is X-chromosomal inherited and belongs to the neuroacanthocytosis syndromes (NAS). Read More

PLoS One 2015 27;10(4):e0125861. Epub 2015 Apr 27.

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

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of spiculated erythrocytes, is observed in about 10% of the PKAN patients. Read More

Br J Hosp Med (Lond) 2014 Dec;75(12):712-3

Specialist Registrar in Neurology.

Tremor Other Hyperkinet Mov (N Y) 2014 31;4:248. Epub 2014 Oct 31.

Neurologische Klinik, Klinikum der Universität München, 81377 München, Germany.

Background: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN). China has the largest population in the world, which makes it a good location for investigating rare diseases like NA.

Methods: We searched Medline, ISI Proceedings, China National Knowledge Infrastructure, and Wanfang Data for literature published through December 31, 2013 for all the published Chinese NA case reports and extracted the clinical and laboratory findings. Read More

BMJ Case Rep 2014 Jun 3;2014. Epub 2014 Jun 3.

Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, Hong Kong.

We report the first case of a Chinese family with McLeod syndrome (MLS). The two affected brothers show significant phenotypic heterogeneity. The index case has peripheral acanthocytosis, choreoathetosis of his feet, a slowly progressive neuropathy and myopathy, and an elevated serum creatine kinase (CK) level. Read More

Neurodegener Dis Manag 2014 ;4(1):67-72

Neurology Service, Department of Internal Medicine, The Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

Huntington's disease (HD), an autosomal-dominant illness caused by an expansion of the CAG repeats on the short arm of chromosome 4, is clinically characterized by a combination of movement disorders, cognitive decline and behavioral changes. HD accounts for 90-99% of patients who present with this clinical picture. The remaining patients that are negative for the HD genetic mutation are said to have HD phenocopies. Read More

J Neurol Sci 2014 May 27;340(1-2):221-4. Epub 2014 Feb 27.

Section of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan, Taiwan; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan, Taiwan; Healthy Aging Research Center, Chang Gung University, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address:

McLeod syndrome is one subtype of rare neuroacanthocytosis syndromes characterized by misshapen red blood cells and progressive degeneration of the basal ganglia. It is an X-linked recessive disorder with mutation in the XK gene of the Kell blood group system with multisystem involvements. Concerning the movement disorders, its dyskinesias are various and difficult to differentiate from those in Huntington's disease or other hyperkinetic movement disorders. Read More

Curr Opin Hematol 2014 May;21(3):201-9

aDepartment of Medicine, Section of Internal Medicine, University of Verona, Verona, Italy bDepartment of Biochemistry, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands cRed Cell Physiology Laboratory, New York Blood Center, New York, New York, USA.

Purpose Of Review: This review discusses the mechanisms involved in the generation of thorny red blood cells (RBCs), known as acanthocytes, in patients with neuroacanthocytosis, a heterogenous group of neurodegenerative hereditary disorders that include chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS).

Recent Findings: Although molecular defects associated with neuroacanthocytosis have been identified recently, their pathophysiology and the related RBC abnormalities are largely unknown. Studies in ChAc RBCs have shown an altered association between the cytoskeleton and the integral membrane protein compartment in the absence of major changes in RBC membrane composition. Read More

J Neurol Sci 2014 Apr 1;339(1-2):220-2. Epub 2014 Feb 1.

Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

We present a 70-year-old male patient of Greek origin with choreatic movements of the tongue and face, lower limb muscle weakness, peripheral neuropathy, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional Factor IX-deficiency. Genetic testing for mutations in the three exons of the XK gene revealed a previously unreported hemizygous single base-pair frameshift deletion at exon 1 (c.229delC, p. Read More

Am J Pathol 2014 Mar 7;184(3):800-7. Epub 2014 Jan 7.

New York Blood Center, New York, New York.

McLeod neuroacanthocytosis syndrome (MLS) is a rare X-linked multisystem disease caused by XK gene mutations and characterized by hematological and neurological abnormalities. XK, a putative membrane transporter, is expressed ubiquitously and is covalently linked to Kell, an endothelin-3-converting enzyme (ECE-3). Absence of XK results in reduction of Kell at sites where both proteins are coexpressed. Read More

J R Coll Physicians Edinb 2013 ;43(4):353-60

P Stride 23 Aland St Wavell Heights Brisbane, Queensland Australia.

The mental decline of King Henry VIII from being a jovial, charismatic and athletic young man into an increasingly paranoid, brutal tyrant in later life, ever more concerned at his lack of one or more male heirs, has attracted many medical diagnostic theories. Previous hypotheses have included diabetes, syphilis and hypothyroidism, among others. However, these inadequately explain Henry's failure to produce a male heir, despite multiple pairings. Read More

PLoS One 2013 5;8(11):e79241. Epub 2013 Nov 5.

Service de Neurologie, CHU Bordeaux, Bordeaux, France ; Service de Neurologie, CH François Mitterrand, Pau, France.

Background: Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS. Read More

PLoS One 2013 3;8(10):e76715. Epub 2013 Oct 3.

Max F. Perutz Laboratories, Medical University of Vienna, Vienna, Austria.

Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainly affect the basal ganglia and are associated with similar neurological symptoms. PKAN is also assigned to a group of rare neurodegenerative diseases, known as NBIA (neurodegeneration with brain iron accumulation), associated with iron accumulation in the basal ganglia and progressive movement disorder. Acanthocytosis, the occurrence of misshaped erythrocytes with thorny protrusions, is frequently observed in ChAc and MLS patients but less prevalent in PKAN (about 10%) and HDL2 patients. Read More

BMJ Case Rep 2013 Aug 13;2013. Epub 2013 Aug 13.

Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, Hong Kong.

We report the first case of McLeod syndrome (MLS) in a 47-year-old Chinese man who presented with progressive limb weakness, chorea of feet, red blood cell acanthocytosis, absence of Kx red blood cell antigen and weak expression of Kell antigens. The diagnosis of MLS was confirmed by genetic testing showing a hemizygous mutation of XK gene. We review literature on neuroacanthocytosis in the Chinese population. Read More

Neuroradiol J 2013 Feb 8;26(1):21-6. Epub 2013 Mar 8.

Gokuldas Tejpal Hospital Spectrum CT MRI Centre, Mumbai, India.

Huntington's disease and neuroacanthocytosis may present similar clinical and MRI features. It is important to differentiate these findings since treatment and prognosis vary vastly between them. The aim of this article is to familiarize radiologists with the differentiating features of Huntington's disease and various diseases comprising neuroacanthocytosis. Read More

Neurobiol Aging 2013 Oct 30;34(10):2442.e11-7. Epub 2013 May 30.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.

Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to investigate 3 affected individuals with Joubert syndrome, nemaline myopathy, or spastic ataxia Charlevoix-Saguenay type. Read More

Actas Esp Psiquiatr 2013 Mar-Apr;41(2):133-6. Epub 2013 Mar 1.

Psiquiatra del Complejo Asistencial de Palencia, Palencia,

Unlabelled: Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of neuroacanthocytosis syndromes, a group of genetically defined diseases associated with progressive degeneration of the basal ganglia and peripheral red blood cell acanthocytes. Read More

Neural Regen Res 2013 Mar;8(9):833-42

Department of Neurology, Dalian Municipal Central Hospital, Affiliated Hospital of Dalian Medical University, Dalian 116033, Liaoning Province, China.

Neuroacanthocytosis is an autosomal recessive or dominant inherited disease characterized by widespread, non-specific nervous system symptoms, or spiculated "acanthocytic" red blood cells. The clinical manifestations typically involve chorea and dystonia, or a range of other movement disorders. Psychiatric and cognitive symptoms may also be present. Read More

Tremor Other Hyperkinet Mov (N Y) 2012 30;2. Epub 2012 Jan 30.

Departments of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York, United States of America ; Mount Sinai School of Medicine, New York City, New York, United States of America.

CHOREA CAN BE CAUSED BY A MULTITUDE OF ETIOLOGIES: neurodegenerative, pharmacological, structural, metabolic, and others. In absence of other apparent causes, exclusion of Huntington's disease is often a first step in the diagnostic process. There are a number of neurodegenerative disorders whose genetic etiology has been identified in the past decade. Read More

Mov Disord 2012 Nov;27(13):1701-2

Blood Cells Mol Dis 2013 Feb 31;50(2):80-5. Epub 2012 Oct 31.

Department of Laboratory Medicine, Boston Children's Hospital, Department of Pathology Harvard Medical School, Boston, MA, USA.

XK is a putative transporter of unknown function that is ubiquitously expressed and linked through disulfide bonds to Kell protein, an endothelin-3 (ET-3)-converting enzyme. We generated three knockout (KO) mice that lacked either Xk, Kell or both proteins and characterized erythrocyte cation levels, transport and hematological parameters. Absence of Xk or Kell was accompanied by changes in erythrocyte K(+), Mg(2+), Na(+) and Ca(2+) transport that were associated with changes in mean cellular volume and corpuscular hemoglobin concentration mean. Read More

Nat Rev Neurol 2012 Mar 20;8(5):275-83. Epub 2012 Mar 20.

Department of Neurology, Alfred Hospital, Commercial Road, Melbourne, VIC 3004, Australia.

Dystonia is a syndrome of abnormal involuntary movements that are repetitive, twisting or patterned, and can result in abnormal postures. Dystonia may be generalized or focal, and can occur as a primary syndrome or secondary to another disease--over 50 clinical conditions are reported to cause dystonia. Classification of dystonia is based on genetic background, anatomical distribution, age at onset, and neurodegenerative processes. Read More

Neurobiol Dis 2012 Jun 9;46(3):607-24. Epub 2012 Mar 9.

Max F Perutz Laboratories, Medical University of Vienna, Vienna, Austria.

The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Read More

PLoS One 2012 15;7(2):e31015. Epub 2012 Feb 15.

Department of Medicine, University of Verona, Verona, Italy.

Acanthocytes, abnormal thorny red blood cells (RBC), are one of the biological hallmarks of neuroacanthocytosis syndromes (NA), a group of rare hereditary neurodegenerative disorders. Since RBCs are easily accessible, the study of acanthocytes in NA may provide insights into potential mechanisms of neurodegeneration. Previous studies have shown that changes in RBC membrane protein phosphorylation state affect RBC membrane mechanical stability and morphology. Read More

Mov Disord 2012 Apr 28;27(4):539-43. Epub 2011 Oct 28.

Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA.

Neuroacanthocytoses are neurodegenerative disorders marked by phenotypic and genetic heterogeneity. There are several associated genetic loci, and many defects, including gene deletions and insertions, and missense, nonsense, and splicing mutations, have been found spread over hundreds of kilobases of genomic DNA. In some cases, specific diagnosis is unclear, particularly in the early stages of disease or when there is an atypical presentation. Read More

Orphanet J Rare Dis 2011 Oct 25;6:68. Epub 2011 Oct 25.

Department of Neurology, University Hospital Zürich, Zürich, Switzerland.

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington's disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Read More

Arch Neurol 2011 Oct;68(10):1330-3

The Wellcome Trust Centre for Human Genetics, Oxford, England.

Objective: To determine the molecular nature of the neurological disease in the seminal family reported by Critchley et al in the 1960s, characterized by a hyperkinetic movement disorder and the appearance of acanthocytosis on peripheral blood smear. The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion.

Design: DNA analysis. Read More

Mov Disord 2011 Sep 28;26(11):2123-6. Epub 2011 Jun 28.

Department of Neurology, University Hospital Zürich, Zürich, Switzerland.

Background: The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea-acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such as tongue protrusion dystonia, feeding dystonia, and rubber-man-like appearance.

Methods: This work comprised a case series of 3 patients with McLeod syndrome. Read More

Handb Clin Neurol 2011 ;100:141-51

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

The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms may be prominent. Read More