An adult onset metachromatic leukodystrophy with dominant inheritance and normal arylsulphatase A levels

A family with a variant of adult onset metachromatic leukodystrophy is presented. Clinical details from three affected members are given. The neurophysiological and neuroradiological data on the two brothers who have been recently studied are included. One of these died and the post-mortem findings are discussed along with those from a cousin who died some years ago. Arylsulphatase A levels were normal in both brothers yet the histological findings in the one who died are of a metachromatic leukodystrophy and thin-layer chromatography confirms an excess of sulphatides in the white matter of his brain. Disabling hypotension was a striking feature in both brothers but adrenal function was shown to be intact and autonomic neuropathy seemed the likely cause. Study of the family suggests a dominant mode of inheritance.