Neurodegenerative disorder that affects both the CNS and the peripheral nervous system
Krabbe’s disease (globoid cell leukodystrophy) is an autosomal recessive enzyme defect in galactosylceramide beta-galactosidase that results in irritability, increased tone, optic atrophy, cortical blindness, and peripheral nerve segmental demyelination.
Metachromatic leukodystrophy is an autosomal recessive lysosomal storage disorder caused by a mutation in arylsulfatase A that also affects both central and peripheral myelin.
