Alexander disease

(redirected from Alexander's disease)

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 ?
'Although growing up rare has presented unexpected challenges, I am grateful to those who have helped me along my journey and inspired me to find my passion in life,' said Skyler DiPalma, rare disease advocate living with Alexander's disease. 'Tackling life's milestones while living with a rare disease can be trying, but it can be done.'
According to our investigation, the pro-band did not have alopecia, spondylosis, and adult-onset Alexander's disease. Pedigree analysis was performed for the pro-band and his family, and there were two major features: 1) stroke and progressive cognitive impairment as the major clinical characteristics; 2) negative Notch3.
Leigh's disease 13 MLD 4 Wilson's disease 2 Gangliosidosis 2 PKAN (NBIA Type 1) 2 Canavan's disease 1 Alexander's disease 1 Glutaric aciduria 1 The criterion of image interpretation was the image based classification, which grossly divides these disorders on the pattern of involvement of gray and white matter.
Adult Alexander's disease without leukoencephalopathy Ann Neurol 2005; 58:813-814.
A QUALITY field turned out at the Heartlands Club, Aston, to take part in a 501 competition in an effort to raise money for Alfie Leadbetter, a young man from Middlesbrough who suffers from Alexander's Disease, an illness that destroys the nervous system.
Mum Debbie, 36, who has three other sons, Connor, 14, Kai, six, and three-year-old Ellis, said: "With Alexander's disease, children don't normally survive past seven.
The periventricular and brainstem white matter T2 signal hyperintensities are consistent with expected MRI findings in Alexander's disease. (1) It was of interest to note that while her clinical symptoms have continued to worsen since onset, albeit slowly, the extent of the characteristic white matter hyperintensities on MRI has remained relatively stable since her initial imaging seven years ago.
Prominent white matter cavitation in an infant with Alexander's disease. Clin Neuropathol 1994;13:31-38.
Glioma, amyotrophic lateral sclerosis, Alexander's disease and stroke are just a few examples of diseases glia are critically involved in.
Alexander's disease (fibrinoid leukodystrophy) is a rare leukodystrophy in which a mutation of the gene for glial fibrillary acidic protein (GFAP) on chromosome 11 occurs due to autosomal-recessive inheritance with variable penetrance in male infants.
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol 2002; 52: 779-785.
Proceeds from Sunday's event at The Galleries, Washington, will go into a fund for 17-year-old David Pattison, from Seaham, who has Alexander's disease.

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