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Summary
METACHROMATIC LEUKODISTROPHIES
METACHROMATIC LEUKODYSTROPHY, JUVENILE
250100
OMIM = Online Medalian Inheritance of Men
512
22q13.33
  • bone marrow transplantation
  • immunomodulation (?)
  • vigabatrin
rare (1:40000)
autosomal recessive
mutation in the arylsulfatase A gene
3 types:
-late infantile
- juvenile
- adult form
>40 different mutations
symptoms
ataxia
behavior, abnormal or bizarre, confusion
defect of walking, running, rising or climbing
dysarthria
dystonia
Fanconi syndrome
gait disturbance
gallbladder abnormalities
hyperreflexia
hyporeflexia
hypotonia
leukodystrophy
mental retardation
motor retardation
muscle weakness
nystagmus
onset, adulthood
onset, childhood
optic atrophy
peripheral neuropathy
progressive neurologic defect
seizures
spastic diplegia/quadriplegia
laboratory finding
Arylsulfatase A decreased activityall tissues
Protein, total, spinal fluid 10.0030.00increasedcerebrospinal fluid
Lactosylceramide 3-sulfate0.000.00 increasedurineno data
Galactosylceramide 3-sulfate0.000.00 increasedurineno data
Taurocholic acid0.000.00 increasedurineno data
EEG abnormalities -
MRI, brain, white matter abnormalities -
conjunctival biopsy, abnormal abnormal
Protein increasedcerebrospinal fluid
Literature
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