ABSTRACT
Metachromatic staining of the brain in neurodegenerative disease was reported as early as 1910 by Perusini and by Alzheimer [1,2] in studies of adults. The classic late infantile form of metachromatic leukodystrophy (MLD) was first reported by Greenfield [3] in 1933. Scholz [4], in 1925, published a detailed clinical pathologic study of juvenile or childhood-onset leukodystrophy, and Peiffer [5], 34 years later, demonstrated that the neural tissues of Scholz’s frozen sections stained metachromatically. The metachromasia results from the accumulation of sulfatides, and this was discovered independently in 1958 by Jatzkewitz [6] and Austin [7]. It was Austin [8] and his colleagues who found the defective activity of arylsulfatase A. Mehl and Jatzkewitz [9] demonstrated defective activity against cerebroside sulfate, the material that accumulates in MLD (Figure 102.1).
