Synonyms for acanthocytosis or Related words with acanthocytosis
Examples of "acanthocytosis"
Many other neurological conditions are associated with
but are not considered 'core'
syndromes. The commonest are:
is characterised by dystonia, chorea and progressive cognitive, behavioural changes and seizures. Strikingly, many people with chorea
uncontrollably bite their tongue, lips, and the inside of the mouth. Eye movement abnormalities are also seen.
There are about 500–1,000 cases of chorea
worldwide and it is not specific to any particular ethnic group.
is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted.
Mouthguards and other physical protective devices may be useful in preventing damage to the lips and tongue due to the orofacial chorea and dystonia typical of chorea
Mutation of XK protein may lead to McLeod syndrome, a multi-system disorder characterized by hemolytic anemia, myopathy,
, and chorea.
The treatment to battle the disease chorea-
is completely symptomatic. For example, Botulinum toxin injections can help to control orolingual dystonia.
is an autosomal recessive disorder caused by mutations in the "VPS13A", also called "CHAC", on chromosome 9q21. The gene encodes the protein Vacuolar protein sorting-associated protein 13A, also known as chorein. The protein's function is unknown.
secondary to malnourishment, such as anorexia nervosa and cystic fibrosis, remits with resolution of the nutritional deficiency. Acanthocyte-like cells may be found in hypothyroidism, after splenectomy, and in myelodysplasia.
The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea
and McLeod syndrome. Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN).
The 'core' neuroacanthocytosis syndromes are chorea
and McLeod syndrome. Acanthocytes are nearly always present in these conditions and they share common clinical features. Some of these features are also seen in the other neurological syndromes associated with neuroacanthocytosis.
can refer generally to the presence of this type of crenated red blood cell, such as may be found in severe cirrhosis or pancreatitis, but can refer specifically to abetalipoproteinemia, a clinical condition with acanthocytic red blood cells, neurologic problems and steatorrhea. This particular cause of
(also known as abetalipoproteinemia, apolipoprotein B deficiency, and Bassen-Kornzweig syndrome) is a rare, genetically inherited, autosomal recessive condition due to the inability to fully digest dietary fats in the intestines as a result of various mutations of the microsomal triglyceride transfer protein (MTTP) gene.
Some more information about Chorea-
is that it is a very complex autosomal recessive adult-onset neurodegenerative disorder. It often shows itself as a mixed movement disorder, in which chorea, tics, dystonia and even parkinsonism may appear as a symptom.
Deep Brain Stimulation is a treatment that has varied effects on the people suffering from the symptoms of this disease, for some it has helped in a large way and for other people it did not help whatsoever, it is more effective on specific symptoms of the disease. Patients with chorea-
should undergo a cardiac evaluation every 5 years to look for cardiomyopathy.
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea
. Alternative splicing of this gene results in multiple transcript variants.
Acanthocytes have coarse, weirdly spaced, variably sized crenations, resembling many-pointed stars. They are seen on blood films in, among others abetalipoproteinemia, liver disease, chorea
, McLeod syndrome, and several inherited neurological and other disorders, such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, idiopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic granulomatous disease.
The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood. "
" originated from the Greek word "acantha", meaning thorn. Acanthocytes are spiculated red blood cells and can be caused by altered distribution of membrane lipids or membrane protein/skeleton abnormalities. In neuroacanthocytosis, acanthocytes are caused by protein but not lipid membrane abnormalities
(ChAc, also called Choreoacanthocytosis), is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.
McLeod syndrome is present in 0.5 to 1 per 100,000 of the population. McLeod males have variable
due to a defect in the inner leaflet bilayer of the red blood cell, as well as mild hemolysis. 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. Some individuals with McLeod phenotype develop myopathy, neuropathy, or psychiatric symptoms, producing a syndrome that may mimic chorea.
A second form of neuroacanthocytosis, Levine-Critchley syndrome, was discovered by the American internist Irvine M. Levine in 1960 and reported in "Neurology" in 1964, and again in 1968. Subsequently, similar symptoms were identified and described by the British neurologist MacDonald Critchley in 1968. In both cases, the physicians described a hereditary syndrome that combined
with neurological peculiarities but normal serum lipoprotein. Specific symptoms included tics, grimacing, movement disorders, difficulty swallowing, poor coordination, hyporeflexia, chorea, and seizures. Patients often mutilated their tongues, lips, and cheeks. The diseases appeared in both sexes, and were usually diagnosed in infancy.
Copyright © 2017