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Article
March 1968

Metachromatic Leukodystrophy (MLD): VIII. MLD in Adults; Diagnosis and Pathogenesis

Author Affiliations

Denver
From the divisions of neurology, University of Oregon Medical School, Portland, Ore, and University of Colorado Medical School, Denver

Arch Neurol. 1968;18(3):225-240. doi:10.1001/archneur.1968.00470330015001
Abstract

ADULTS, as well as children, develop metachromatic leukodystrophy (MLD). Does the adult with MLD also have a sulfatase A deficiency? If he does, can this enzyme deficiency really explain his illness? For example, if one presumes that the enzymic defect is inborn, why did his symptoms not begin when he was a child? Are different mechanisms involved in the delayed demyelination of adult MLD than in the form of MLD which affects young children?1-3 Answers to questions posed in the MLD model may help explain why other neurological disorders, though "inborn," appear clinically only later in life.

The purpose of the present report is threefold: (1) to note sulfatase studies and other laboratory data in a 62-year-old adult with MLD; (2) to review the pertinent literature and to comment on some special clinical features and pathogenic mechanisms of adult MLD; (3) to synthesize from this information a working

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