129 results match your criteria Neuroacanthocytosis Syndromes


A Novel Gene Mutation Causative of McLeod Syndrome.

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

Department of Neurology Massachusetts General Hospital Boston Massachusetts USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7111571PMC

A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12883-019-1526-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882147PMC
November 2019

Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.004DOI Listing
February 2020
8 Reads

Chorea.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/CON.0000000000000763DOI Listing
August 2019
8 Reads

Neuroacanthocytosis: a case report of chorea-acanthocytosis.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.31083/j.jin.2019.02.165DOI Listing
June 2019
3 Reads

McLeod syndrome: Five new pedigrees with novel mutations.

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S13538020193021
Publisher Site
http://dx.doi.org/10.1016/j.parkreldis.2019.04.022DOI Listing
July 2019
27 Reads

A Case of McLeod Syndrome with A Novel Missense Mutation.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336288PMC
April 2018
7 Reads

Neuroacanthocytosis with unusual clinical features: A case report.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000014050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336636PMC
January 2019
51 Reads

O'Sullivan-McLeod syndrome: Unmasking a rare atypical motor neuron disease.

Rev Neurol (Paris) 2019 Jan - Feb;175(1-2):81-86. Epub 2018 Nov 5.

Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

Atypical motor neuron disease represents a rare heterogeneous group of neurodegenerative disorders with clinical, genetic and neuroimaging features distinct from those of the classic spinal or bulbar-onset amyotrophic lateral sclerosis (ALS). O'Sullivan-McLeod syndrome represents an extremely rare lower motor neuronopathy with early adult-onset distal amyotrophy and weakness in the upper limbs with asymmetrical involvement. To add to the few case series and epidemiological and genetic studies describing this variant syndrome, our team here presents a series of seven unrelated Brazilian patients with O'Sullivan-McLeod syndrome in a detailed review of their clinical, neuroimaging, laboratory and neurophysiological findings. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurol.2018.04.009DOI Listing
June 2019
74 Reads

Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome.

Parkinsonism Relat Disord 2019 03 14;60:158-161. Epub 2018 Sep 14.

Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.

Objective: To document life expectancy and causes of death in chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS).

Methods: We reviewed our personal databases and the published literature to identify cases of ChAc and MLS for whom adequate information was available regarding ages of disease onset and death, cause of death, and other clinical information.

Results: Adequate information was obtained on 52 patients with ChAc and 34 with MLS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2018.09.003DOI Listing
March 2019
3.972 Impact Factor

Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.

JAMA Neurol 2018 12;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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaneurol.2018.2166DOI Listing
December 2018
8 Reads

Progress in the Diagnosis and Management of Chorea-acanthocytosis.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24920/21802DOI Listing
March 2018
10 Reads

Novel XK mutation in a McLeod patient diagnosed after heart transplant.

Clin Neurol Neurosurg 2018 05 1;168:64-66. Epub 2018 Mar 1.

Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France; Université de Lyon, CNRS, Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, 69500 Bron, France; Université de Lyon, Université Claude Bernard Lyon 1, Faculté de médecine Lyon Sud Charles Mérieux, 69000 Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2018.02.039DOI Listing
May 2018
7 Reads

Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.12.007DOI Listing
November 2018
24 Reads
1 Citation
1.490 Impact Factor

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7916/D81J9PDXDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721130PMC
September 2018
28 Reads

Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/tra.12523DOI Listing
November 2017
16 Reads

[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0042-123042DOI Listing
May 2017
27 Reads
0.762 Impact Factor

Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/trf.14172
Publisher Site
http://dx.doi.org/10.1111/trf.14172DOI Listing
September 2017
43 Reads

An Interesting Case of a Movement Disorder.

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

View Article

Download full-text PDF

Source
March 2017
22 Reads

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2016.05.028DOI Listing
August 2016
10 Reads

Deep brain stimulation for the treatment of hyperkinetic movement disorders.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737175.2016.1196139DOI Listing
September 2016
14 Reads

Chorea-acanthocytosis: a case report.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/IMCRJ.S95882DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772938PMC
March 2016
24 Reads

Management of Neuroacanthocytosis Syndromes.

Authors:
Ruth H Walker

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7916/D8W66K48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613733PMC
October 2015
10 Reads

Kell and Kx blood group systems.

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

View Article

Download full-text PDF

Source
November 2015
21 Reads

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

Authors:
Ruth H Walker

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.14802/jmd.15009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460540PMC
May 2015
12 Reads

TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15548627.2015.1034413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507429PMC
April 2016
18 Reads

Neurodegeneration in the elderly - When the blood type matters: An overview of the McLeod syndrome with focus on hematological features.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.transci.2015.04.007DOI Listing
June 2015
17 Reads

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125861PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411072PMC
January 2016
37 Reads

O'Sullivan-McLeod syndrome: clinical features, neuroradiology and nosology.

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

Specialist Registrar in Neurology.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12968/hmed.2014.75.12.712DOI Listing
December 2014
18 Reads

Neuroacanthocytosis in china: a review of published reports.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7916/D8Q23XDXDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219110PMC
November 2014
48 Reads
3 Citations

The first report of a Chinese family with McLeod syndrome.

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

View Article

Download full-text PDF

Source
http://casereports.bmj.com/content/2014/bcr-2013-202785.full
Web Search
http://casereports.bmj.com/cgi/doi/10.1136/bcr-2013-202785
Publisher Site
http://dx.doi.org/10.1136/bcr-2013-202785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054476PMC
June 2014
7 Reads

Differential diagnosis of Huntington's disease: what the clinician should know.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/nmt.13.78DOI Listing
November 2014
15 Reads

A novel XK gene mutation in a Taiwanese family with McLeod syndrome.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2014.02.027DOI Listing
May 2014
18 Reads

Abnormal red cell features associated with hereditary neurodegenerative disorders: the neuroacanthocytosis syndromes.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MOH.0000000000000035DOI Listing
May 2014
15 Reads

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2014.01.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988988PMC
April 2014
36 Reads

Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajpath.2013.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936324PMC
March 2014
25 Reads
1 Citation
4.590 Impact Factor

Henry VIII, McLeod syndrome and Jacquetta's curse.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4997/JRCPE.2013.417DOI Listing
September 2014
83 Reads

Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079241PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818425PMC
August 2014
97 Reads
6 Citations
3.234 Impact Factor

Alterations of red cell membrane properties in neuroacanthocytosis.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0076715PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789665PMC
April 2014
37 Reads
5 Citations
3.234 Impact Factor

The first case report of McLeod syndrome in a Chinese patient.

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

View Article

Download full-text PDF

Source
http://casereports.bmj.com/content/2013/bcr-2013-200205.full
Web Search
http://casereports.bmj.com/cgi/doi/10.1136/bcr-2013-200205
Publisher Site
http://dx.doi.org/10.1136/bcr-2013-200205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762422PMC
August 2013
9 Reads

A case of McLeod phenotype of neuroacanthocytosis brain MR features and literature review.

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

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278858PMC
http://dx.doi.org/10.1177/197140091302600103DOI Listing
February 2013
5 Reads

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.029DOI Listing
October 2013
86 Reads

Psychiatric symptoms in a woman with chorea-acanthocytosis.

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

View Article

Download full-text PDF

Source
March 2014
8 Reads

Clinical and molecular research of neuroacanthocytosis.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3969/j.issn.1673-5374.2013.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4146083PMC
March 2013
30 Reads

Update on the Non-Huntington's Disease Choreas with Comments on the Current Nomenclature.

Authors:
Ruth H Walker

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

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570038PMC
http://dx.doi.org/10.7916/D89P30CSDOI Listing
July 2013
7 Reads

The chorea of McLeod syndrome: progression to hypokinesia.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25224DOI Listing
November 2012
21 Reads
3 Citations
5.680 Impact Factor

Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bcmd.2012.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540154PMC
February 2013
20 Reads