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metachromatic leukodystrophy
Name derived from staining properties of stored sulfatides. Three childhood forms & adult form.
Pathology:
- intralysosomal storage of cerebroside-3-sulfate
- accumulation of cerebroside-3-sulfate in myelin membranes
- storage occurs in many cells; however, disease almost exclusively affects oligodendrocytes
- progressive demyelination
Genetics:
- associated with defects in ARSA
Clinical manifestations:
- variety of neurological symptoms result from progressive demyelination
- gait disturbances
- ataxia
- optical atrophy
- dementia
- seizures
- spastic tetraparesis several years after the onset of disease
- patients die in a decerebrated state
Laboratory:
- ARSA gene mutation
- cerebroside sulfatase in leukocytes
Specific
metachromatic leukodystrophy (adult form)
metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency
metachromatic leukodystrophy, adult form, with normal arylsulfatase
metachromatic leukodystrophy, Scholz type leukodystrophy or Greenfield's disease
General
leukodystrophy
sulfatidosis
Database Correlations
OMIM 250100
References
- NINDS Metachromatic Leukodystrophy Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Metachromatic-Leukodystrophy-Information-Page