metachromatic leukodystrophy

Introduction

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

More general terms

• sulfatidosis
• leukodystrophy

More specific terms

• 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

Database

• OMIM: https://mirror.omim.org/entry/250100