Metachromatic Leukodystrophy: A Comparative Study of the Ultrastructural Findings in the Peripheral Nervous System of Three Cases, One of the Late Infantile, One of the Juvenile and one of the Adult Form of the Disease

Abstract
The pathological changes consist of 2 phenomena: segmental demyelination and lysosomal storage of sulfatides, both probably separate results of a deficiency of the enzyme arylsulfatase A (EC 3.1.6.1). Some differences are found in the degree of segmental demyelination and the type of lysosomal storage products. A possible relation between these differences and the supposed difference in the defect of arylsulfatase A, responsible for the different subtypes of the disease, is postulated.