In conclusion, McLeod syndrome should be considered in patients presenting with CK elevation, slight myopathic or neuropathic signs, choreatic symptoms or cardiomyopathy. Pathognomonic is the variant erythrocyte Kell phenotype "McLeod". [hum-molgen.org]

Serial assessment of patient MT with McLeod syndrome (MLS) and a cross-sectional study in nine patients with genetically confirmed chorea-acanthocytosis (ChAc) are presented along with a review of more than 20 case reports each from the literature. [scholars.northwestern.edu]

Lee S. 2007 27 Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. ( 17443046 ) Kawano Y....Kira J. 2007 28 Bronchial adenoid cystic carcinoma presenting [malacards.org]

In women, a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X - linked recessive disorders much more frequently than women. [ivami.com]

• Movement Disorder

  Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. [genome.jp]

  Sutton, Other Adult-Onset Movement Disorders with a Genetic Basis, Genetics of Movement Disorders, 10.1016/B978-012566652-7/50046-0, (511-540), (2003). Soohee Lee, David C.W. Russo, Marion E. Reid and Colvin M. [doi.org]

  Movement Disorders collects over 90 of the most memorable and challenging movement disorder cases from the worldís leading authorities in this specialty. [books.google.com]

  Walker}, journal={Movement disorders : official journal of the Movement Disorder Society}, year={2012}, volume={27 13}, pages={ 1701-2 } } Marcelo Heller Miranda, Hans H. Jung, +1 author Ruth H. [semanticscholar.org]

• Weakness

  Case RH (27 years) underwent diagnosis because of slight generalized weakness. Clinical examination showed pseudohypertrophia of the calves and areflexia. Creatine kinase was 300-400 U/l. A peripheral blood smear showed 5% acanthocytes. [hum-molgen.org]

  Definition A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. [uniprot.org]

  Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). [ghr.nlm.nih.gov]

  The first case had been authenticated as a genuine McLeod both by serology and by genotyping (R222G missense mutation) and the second case had a mutation in XK (IVS2+5G>A) and by serology exhibited very weak Kx antigen and no detectable Kell antigens, [ncbi.nlm.nih.gov]

• Epilepsy

  The diagnosis of epilepsy may precede the onset of movement disorders by several years (Al-Asmi et al., 2005; Scheid et al., 2009). [movementdisorders.org]

  Página 41 - A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201, 1995. ‎ [books.google.es]

  Medication may be used for the management of epilepsy, cardiac problems and psychiatric features, although pharmacological response to chorea is mostly inadequate. [xpertdox.com]

  Medication may assist with management of epilepsy, and cardiac and psychiatric features, although patients may respond poorly to treatment for chorea. [en.wikipedia.org]

• Anemia

  Signs of hemolytic anemia are seen in McLeod Syndrome. Elevated level of creatine kinase can be seen with myopathy in McLeod syndrome. [xpertdox.com]

  Common features include peripheral neuropathy, cardiomyopathy, and hemolytic anemia. Other features include limb chorea, facial tics, other oral movements (lip and tongue biting), seizures, a late-onset dementia, and behavioral changes. [en.wikipedia.org]

  The Kell blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in newborns of Kell-negative mothers. [rareconnect.org]

  Blood evaluation may show signs of hemolytic anemia. Elevated creatine kinase can be seen with myopathy in McLeod syndrome. [dictionnaire.sensagent.leparisien.fr]

• Short Stature

  Orlin and Ruth Gershoni‐Baruch, Rambam–Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and bombay phenotype, American Journal of Medical Genetics, 44, 3, (297-302), (2005). P. [doi.org]

  [Acanthocytosis, short stature and disordered deep sensation in a 26-year-old patient]. Internist (Berl). 1989 Jun. 30(6):382-5. [Medline]. Pisani A, Diomedi M, Rum A, Cianciulli P, Floris R, Orlacchio A, et al. [emedicine.medscape.com]

• Myopathy

  Transfusion; 43: 928-938 Jung HH, Brandner S (2002) Malignant McLeod myopathy. Muscle Nerve; 26: 424-427 Jung HH, Russo D, Redman C, Brandner S (2001) Kell and XK immunohistochemistry in McLeod myopathy. [research-projects.uzh.ch]

  People with McLeod neuroacanthocytosis syndrome also have problems with their muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy). [ghr.nlm.nih.gov]

  Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. [typeset.io]

  Some patients develop myopathy, neuropathy, or psychiatric symptoms. Causes : The McLeod phenotype is caused due to recessive mutation McLeod gene which encodes for the Kell blood group system. [xpertdox.com]

• Psychiatric Manifestation

  Muscle Nerve 24: 1346-1351 Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell-Weber M, Daniels G, Kollias S, Hess K (2001) McLeod Syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. [research-projects.uzh.ch]

  McLeod syndrome and chorea acanthocytosis]. ( 12243006 ) Danek A. 2002 38 The chorea of McLeod syndrome. ( 11746618 ) Danek A....Monaco A.P. 2001 39 McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging [malacards.org]

  The gait of choreo-acanthocytosis patients may have a “rubber man” appearance with truncal instability and sudden, violent truncal spasms.3 Psychiatric manifestations are common. [japi.org]

  Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades. [scienceopen.com]

• Psychiatric Symptoms

  CNS manifestations are a neurodegenerative basal ganglia disease including (1) movement disorder, (2) cognitive impairment, and (3) psychiatric symptoms. [rareconnect.org]

  Some patients suffer from vocal tics; half of all patients develop epilepsy, which may also be the first symptom. Most patients develop cognitive impairment and changes in personality and/or psychiatric symptoms during the course of the disease. [mgz-muenchen.de]

  The neurological presentation can vary widely among diseases and can include shared characteristic features of movement disorders, neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures. [statpearls.com]

  There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and [brainandlife.org]

• Abnormal Behavior

  For the people who can be eligible for the supportive treatment of this neurological disorder could be those who have the symptoms as reported for this syndrome which includes the movement disorder, red blood cells abnormality, behavioral symptoms and [lybrate.com]

  Since last nine months she had developed abnormal behavior in the form of excessive and non-purposeful talking, repeating the sentences and motor acts. The caregivers reported the habit of self-mutilation. [ijcasereportsandimages.com]

• Chorea

  Chorea-acanthocytosis is described in [HD: H01432 ]. PKAN is allelic with HARP syndrome. [genome.jp]

  Serial assessment of patient MT with McLeod syndrome (MLS) and a cross-sectional study in nine patients with genetically confirmed chorea-acanthocytosis (ChAc) are presented along with a review of more than 20 case reports each from the literature. [scholars.northwestern.edu]

  McLeod syndrome and chorea acanthocytosis]. ( 12243006 ) Danek A. 2002 38 The chorea of McLeod syndrome. ( 11746618 ) Danek A....Monaco A.P. 2001 39 McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging [malacards.org]

  A family history indicated that the proband's mother had mild chorea. One elder brother, who died 10 years ago without a confirmed diagnosis, experienced chorea and mental disorders. [journals.lww.com]

• Seizure

  Findings not observed in RH are: progressive biopsy-proven dilative cardiomyopathy, grand mal seizures, psychotic episodes, cognitive impairment and chorea as the most prominent sign. [hum-molgen.org]

  A variety of anticonvulsants is given to patients with seizures so as to overcome the problems of seizures. [lybrate.com]

  He was treated with haloperidol to control the chorea and levetiracetam to control seizures. Six months after treatment, the proband was seizure-free, but little improvement was observed in chorea and cognitive dysfunction. [journals.lww.com]

  Seizures are the presenting manifestation in about 20% of individuals. Up to 40% of individuals with MLS eventually have seizures, usually described as generalized seizures. [ncbi.nlm.nih.gov]

• Peripheral Neuropathy

  Signs and symptoms of the disease include myopathy, atrophy, chorea (particularly affecting the arms and legs), peripheral neuropathy, dystonia in the face and throat and seizures. [ivami.com]

  Ghadiri-Sani M....Larner A.J. 2014 7 A novel XK gene mutation in a Taiwanese family with McLeod syndrome. ( 24635891 ) Chen P.Y....Yeh T.H. 2014 8 Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral [malacards.org]

  Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). [ghr.nlm.nih.gov]

  Sensory symptoms have also been attributed to sensory axonal neuropathy [11, 13]. However, the pathogenesis of the peripheral neuropathy remains to be determined. [bmcneurol.biomedcentral.com]

  Common features include peripheral neuropathy, cardiomyopathy (diseases of the heart muscle, where the walls of the heart have become stretched, thickened or stiff), chorea (abnormal involuntary movement disorder), and hemolytic anemia. [xpertdox.com]

• Areflexia

  Clinical examination showed pseudohypertrophia of the calves and areflexia. Creatine kinase was 300-400 U/l. A peripheral blood smear showed 5% acanthocytes. McLeod syndrome was confirmed by immunohematology. [hum-molgen.org]

  Bassen Kornzweig disease, in which acanthocytes are present in concert with ataxia, retinitis pigmentosa, proprioceptive sensory loss, and areflexia, is included as a less common cause of neuroacanthocytosis. [medlink.com]

  Clinical neuromuscular manifestations include areflexia, sensory-motor neuropathy, variable weakness and atrophy. In at least one third patients, seizure, typically generalised, are the first manifestation of the disease. [japi.org]

  A peripheral neuropathy with areflexia was found in all but 2 patients. The central nervous system was affected in 15 patients, as obvious from the occurrence of seizures, cognitive impairment, psychopathology, and choreatic movements. [typeset.io]

• Confusion

  It should not be confused with Swyer-James-MacLeod syndrome (post-infectious obstructive bronchiolitis). [radiopaedia.org]

  Accepted on 16 Dec 2020 Submitted on 30 Oct 2020 INTRODUCTION Use of the term “neuroacanthocytosis” (NA) has been fraught with taxonomic confusion over the years. [tremorjournal.org]

  10.1097/01.wco.0000173464.01888.e9 Movement disorders Abstract Author Information Authors Article Metrics Metrics The term neuroacanthocytosis describes a group of phenotypically and genetically heterogeneous disorders, and thus has long been a source of confusion [journals.lww.com]

  The main neuroacanthocytosis disorders are: chorea-acanthocytosis McLeod syndrome Two other disorders with similar features can also be included in this group, which has caused confusion about the diagnosis in the past: Huntington's disease-like 2 pantothenate [contact.org.uk]

  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. [jamanetwork.com]

Differential Diagnosis The differential diagnoses for these rare syndromes are many and sometimes may be indistinguishable from other disease entities without the appropriate radiological, laboratory, or genetic workup (see Table 7). [statpearls.com]

About 30% of males with the McLeod blood group phenotype do not have neuromuscular or CNS findings at the time of initial diagnosis of the blood group abnormalities and are only recognized during routine workup in blood banks or in the course of family [ncbi.nlm.nih.gov]

• Acanthocytes

  A peripheral blood smear showed 5% acanthocytes. McLeod syndrome was confirmed by immunohematology. Muscle biopsy revealed neurogenic and myopathic abnormalities with a dystrophinopathy not described in McLeod syndrome so far. [hum-molgen.org]

  McLeod females have only occasional acanthocytes and very mild hemolysis; the lesser severity is thought to be due to X chromosome inactivation via the Lyon effect. [en.wikipedia.org]

  The percentage of acanthocytes is not used as a diagnostic criterion for NA, as it is highly variable and does not correlate with the severity of the disease. The mechanism of acanthocyte formation in chorea-acanthocytosis is unknown. [neurologyindia.com]

  The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. [dbpedia.org]

• Gliosis

  There is neuronal loss with secondary gliosis in the caudate and globus pallidus. Similar changes may also be seen in the thalamus, substantia nigra and putamen. The cerebellum and cerebral cortex are generally spared. [radiopaedia.org]

  Necropsy shows loss of neurons and gliosis in the caudate and globus pallidus. Thalamus, substantia nigra, and putamen also show similar changes. The cerebellum and cerebral cortex are generally spared from any similar pathological changes. [xpertdox.com]

  Necropsy shows loss of neurons and gliosis in the caudate and globus pallidus. Similar changes may also be seen in the thalamus, substantia nigra, and putamen. The cerebellum and cerebral cortex are generally spared. [en.wikipedia.org]

  Necropsy shows loss of neurons and gliosis in the caudate and globus pallidus. Similar changes may also be seen in the thalamus, substantia nigra and putamen. The cerebellum and cerebral cortex are generally spared. [dictionnaire.sensagent.leparisien.fr]

Treatment / Management There is no cure or definitive treatment for several of the neuroacanthocytosis syndromes, such as ChAc and MLS (see Table 5).[12] With the exception of ABL, HHBL, and aceruloplasminemia, the goals of management generally are to [statpearls.com]

There are currently no treatments to prevent or slow the progression of McLeod neuroacanthocytosis syndrome and treatment is symptomatic and supportive. [rarediseases.info.nih.gov]

Treatment There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. [brainandlife.org]

Prognosis A typical patient with severe McLeod syndrome that begins in adulthood lives for an additional 5 to 10 years. Patients with cardiomyopathy have elevated risk for congestive heart failure and sudden cardiac death. [ipfs.io]

Prognosis Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia. [brainfacts.org]

The prognosis is often good in some patients with mild neurological or cardiac problems with a normal life span. [xpertdox.com]

This book describes in detail the latest clinical and etiological information regarding chorea. Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed. [books.google.com]

However, there is usually no deficiency of beta-lipoprotein in other etiologies. [medlink.com]

Etiology Chorea-acanthocytosis ChAc is caused by mutations in the gene encoding chorein, vacuolar protein sorting 13 homolog A (VPS13A) 5. [radiopaedia.org]

Similar articles: Aarskog syndrome Antibodies to a Retrovirus Etiologically Associated with Acquired Immunodeficiency Syndrome (AIDS) in Populations with Increased Incidences of the Syndrome Focus On: Acute Chest Syndrome - The Critical Cough Diagnosis [book-med.info]

Relevant External Links for XK Genetic Association Database (GAD) XK Human Genome Epidemiology (HuGE) Navigator XK Atlas of Genetics and Cytogenetics in Oncology and Haematology: XK No data available for Genatlas for XK Gene McLeod phenotype associated [genecards.org]

Many of these diseases vary in genetic penetrance and phenotypic manifestations.[3][4][5][6][8][9][10] Epidemiology Each neuroacanthocytosis syndrome is exceedingly rare (see Table 1). [statpearls.com]

[…] as mouth guards) for tongue and lips Anticonvulsant drugs for seizure control Antipsychotics are prescribed for psychiatric problems Dopamine antagonists are prescribed (but should be heavily monitored) to patients to suppress involuntary movement[8] Epidemiology [wikidoc.org]

As a result, individuals with one disease may have both. [ 4 ] The phenotype may be present without the syndrome presenting. [ 5 ] Epidemiology and disease associations McLeod syndrome is present in 0.5 to 1 per 100,000 the population. [dictionnaire.sensagent.leparisien.fr]

As a result, an individual with one relatively small deletion may have both diseases. [4] The phenotype may be present without the syndrome presenting. [5] Epidemiology and disease associations McLeod syndrome is present in 0.5 to 1 per 100,000 of the [ipfs.io]

Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed. [books.google.com]

We perform several studies (magnetic resonance imaging, volumetry, and spectroscopy, brain pathology, muscle histology, hematology) to study the clinical and pathological characteristics, and to elucidate the pathophysiology of the disorder in the setting [research-projects.uzh.ch]

Examples include HDL2 demonstrating increased reported cases among individuals of African heritage and PKAN occurring more often in small pockets in the Netherlands and the Dominican Republic.[5] Pathophysiology The pathophysiology of these syndromes [statpearls.com]

The clinical similarity of MLS and VPS13A disease has long suggested some shared pathophysiology. [karger.com]

Thus we now have the cells of interest in hand to further analyze the neuronal as well as erythrocytes pathophysiology. [newsletter.naadvocacy.org]

Treatment There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. [brainandlife.org]

Patients with these syndromes may require involved and prolonged team-based care to improve symptoms and prevent the development of serious medical complications. [statpearls.com]

However, an individual affected with Huntington's disease-like 2 has between 41 and 58 trinucleotide repeats.[16] Prevention There are no known prevention methods to slow the progression of HDL2. [wikidoc.org]