Adult metachromatic leukodystrophy. IV. Ultrastructural studies on the central and peripheral nervous system

Ultrastructural studies on the central and peripheral nervous system of 2 patients with adult onset metachromatic leukodystrophy (MLD), dead at the ages of 46 and 51 years, showed MLD-specific inclusions, tufaceous and prismatic structures, a wide spectrum of membranous arrangements within lysosomal residual bodies, and the intimate admixture of sulfatides and other membranous material with lipopigments. Oligodendrocytes and Schwann cells were foremost affected but membranous inclusions could also be verified in neuronal perikarya and astrocytes. The varying ultrastructural spectrum of lysosomal residual bodies in adult onset MLD and the association with lipopigments, chiefly in nerve cells, exceed the fine structural observations on late infantile and juvenile MLD and may reflect morphological differences between these subtypes of MLD that are also known from clinical and biochemical observations.