CEREBROSIDE-SULPHATASE AND ARYLSULPHATASE A DEFICIENCY IN METACHROMATIC LEUKODYSTROPHY (ML)

Abstract— Cerebroside‐sulphatase, arylsulphatase A and B and acid phosphatase activities were determined in renal cortex, liver, and cerebral white matter, obtained at autopsy from seven patients with metachromatic leukodystrophy (ML) and nine controls. It was shown that both arylsulphatase A and cerebroside‐sulphatase activity were reduced to the limit of detection (1–6 per cent of that of the controls) in all ML‐tissues. The quantitative evaluation of the sulphatide level in ML‐demyelinated cerebral white matter and in kidney showed that there was no relationship between the amount of accumulated sulphatide and the duration of illness or the age at death (up to the age of 20). If there should exist any relationship between the sulphatide level and residual enzyme activity, then this residual activity must be beyond the sensitivity of the enzymic assay. This point, and the detailed sequence of the pathological events in brain leading from a deficient cerebroside‐sulphatase activity to a pronounced demyelinating disease, sparing grey matter, are discussed. Copyright © 1969, Wiley Blackwell. All rights reserved