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
  • GFAP
  • 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

More general terms

• leukodystrophy

More specific terms

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

Additional terms

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

Patient information

Alexander's leukodystrophy patient information

Database

• OMIM: https://mirror.omim.org/entry/203450