Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A

In 10 members of 4 generations with several instances of male-to-male transmission, Wright et al. (1988) described an apparent variant of adult-onset metachromatic leukodystrophy. Arylsulfatase A levels were normal, yet the histologic findings in the autopsy in 1 case were those of metachromatic leukodystrophy, and thin-layer chromatography confirmed an excess of sulfatides in the white matter of the brain. The adrenals were unaffected. Disabling hypotension was a striking feature in 2 brothers studied in detail. Because adrenal function was normal, autonomic neuropathy was considered the cause of this feature. The index case, a 55-year-old white male, presented to hospital 3 months before his death with a 2 to 3 year history of progressive difficulty walking. He had also suffered from urinary urgency and incontinence during the previous 6 to 12 months and had noticed clumsiness in his hands shortly before admission to hospital. The severity of the ailment was about equal in males and females in this family. All affected individuals had an affected parent except for the affected male in the first generation, and information concerning his parents is lacking.