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Alexander's leukodystrophy (Alexander disease)

Epidemiology: rare Pathology: - progressive leukoencephalopathy due to failure of central myelination - megalencephaly/macrocephaly - hydrocephalus - demyelination - associated with numerous Rosenthal fibers, especially perivascular & subpial locations Genetics: - autosomal recessive disorder - associated with mutations in genes for a) GFAP b) NADH-ubiquinone oxidoreductase flavoprotein-1 Clinical manifestations: - the most common form affects infants & young children - mental retardation, psychomotor retardation - seizures - juvenile or adult forms - ataxia - bulbar signs - spasticity - more slowly progressive course Complications: - usually death within the first decade of life

Related

alpha-crystallin B chain; alpha(B)-crystallin; heat shock protein beta-5; HspB5; renal carcinoma antigen NY-REN-27; Rosenthal fiber component (CRYAB CRYA2)

Specific

Alexander's leukodystrophy/GFAP mutation Alexander's leukodystrophy/NDUFV1 mutation

General

leukodystrophy

Properties

ACCUMULATION: alpha-crystallin B chain

Database Correlations

OMIM 203450

References

  1. OMIM :accession 203450
  2. National Institute of Neurological Disorders and Stroke (NINDS) NINDS Alexander Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Alexander-Disease-Information-Page