- Hereditary neurodegenerative disease caused by a deficiency of arylsulfatase A (ARSA) causing accumulation of sulfatides (a sphingolipid) in white matter
- Ccerebroside sulfate is a major lipid component of myelin and in high concentrations causes demyelination
- sulfatides are metachromatic sediments in the urine
- One of the lysosomal storage diseases
- Marked by progressive motor and neurocognitive dysfunction
- Autosomal Recessive
- Subtypes based on age of onset
- Late Infantile - onset in first 3 years of life (>50%)
- Juvenile - onset age 4- sexual maturity (20-30%)
- Adult- > age 16
- Motor dysfunction
- difficulty walking
- Muscle wasting, weakness and rigidity
- Impaired swallowing
- Paralysis
- Seizures
- Progressive dementia
- May be preceded by personality changes or mild cognitive dysfunction
- Optic Atrophy
- Cherry-red Spot in macula
- Serum ARSA enzyme level confirmed by elevated urine sulfatide
- MRI Brain
- diffuse high signal on T2 or Proton Density
- diffuse symmetrical anterior leukoencephalopathy sparing the subcortical arcuate U fibers
- Gene sequencing of ARSA gene
- over 200 mutations known and many mutations may not be pathologic
- Nerve/brain biopsy
- Bone Marrow Transplant
- Clinical Trials
- Gene Therapy
- with autologous stem cell transplant
- intracerebral vector delivered genes
- Intrathecal enzyme replacement therapy
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