Alexander disease


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Al·ex·an·der dis·ease

(al-ek-zan'dĕr), [MIM*203450]
a rare, fatal degenerative disease of the central nervous system of infants, characterized by psychomotor retardation, seizures, and paralysis; megaloencephaly is associated with widespread leukodystrophic changes, especially in the frontal lobes.

Alexander disease

A rare, progressive leukoencephalopathy (OMIM:203450) of the CNS, histologically characterised by widespread accumulation of Rosenthal fibres (cytoplasmic inclusions in astrocytes) and failure of central myelination. The most common form develops in infancy, and is accompanied by megalencephaly, developmental delay, spasticity, seizures and psychomotor retardation. Patients with juvenile or adult forms experience ataxia, bulbar signs and spasticity and slower progression.

Molecular pathology
Defects in GFAP, which encodes a major intermediate filament, cause Alexander disease.

Al·ex·an·der dis·ease

(al-ĕg-zan'dĕr di-zēz')
A rare, fatal central nervous system degenerative disease of infants, characterized by psychomotor retardation, seizures, and paralysis; megaloencephaly is associated with widespread leukodystrophic changes, especially in the frontal lobes.

Alexander,

William Stuart, 20th century New Zealand pathologist.
Alexander disease - a rare, fatal, central nervous system degenerative disease of infants.
References in periodicals archive ?
The cells' use in studying diseases of the brain has been shown by the research team through employing CRISPR-Cas9, popularly known as gene editing, to insert a mutation in the embryonic stem cells that gives rise to the serious brain condition Alexander disease.
The differential diagnosis of MLC contains disorders with increased volumes of white matter and macrocephaly such as Canavan disease, Alexander disease, L-2-hydroxyglutaric aciduria, and merosin-deficient congenital muscular dystrophy (4, 5).
Macrocephaly can also be seen in other neurodegenerative disorders such as Alexander Disease and glutaric acidemia Type 1 that takes place in the differential diagnosis (8).
Four-year-old Masie Barrass from Wallsend, North Tyneside, was diagnosed with rare and lifelimiting Alexander Disease at the age of two.
For example, Alexander disease is a rare neurological disease with defect in myelination and it is known by seizure, developmental delay, intellectual disability, and spasticity, similar to PMD; however it has megalencephaly which is absent in PMD.
Third group of disorders involve both gray and white matter includes Mucopolysaccharidoses, Gangliosidoses, Canavan's disease, Alexander disease and Mitochondrial disorders like Leigh's disease and Glutaric aciduria.
Growing awareness of neurological degenerative diseases, such as autism, dyslexia, epilepsy, hydrocephalus, alexander disease among others has resulted in decreased morbidity and mortality, which is expected to bolster the demand for ICP monitoring devices in U.S.
The 33-year-old and nine of his friends and family have raised PS21,000 so far on their Children's Hospitals Challenge to raise awareness of Alexander disease.
But Emilia also has Alexander disease - a nervous system disorder so rare there have only been 500 reported cases worldwide.
They describe the history of neuroscience; the morphology and interrelationships between glial cells and neurones in different parts of the nervous system; the cellular physiology of the different kinds of glial cells; the mechanisms of intra and inter-cellular signaling in glial networks and glial-neuronal communications; the role of glial cells in synaptic plasticity, neuronal survival, and the development of the nervous system; the cellular and molecular mechanisms of metabolic neuronal-glial interactions; and the role of glia in nervous system pathology, including the pathology of glial cells and associated diseases like multiple sclerosis, Alzheimer's, Alexander disease, and Parkinson's disease.
(1) Alexander disease is a rare leukodystrophy characterized by astrocytic cytoplasmic inclusions called Rosenthal fibers.

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