Metachromatic leukodystrophy

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Abstract

<p>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?<sup>1-3</sup>Answers to questions posed in the MLD model may help explain why other neurological disorders, though "inborn," appear clinically only later in life.</p><p>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</p>

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APA

Rossi, A., & Rumboldt, Z. (2010). Metachromatic leukodystrophy. In Brain Imaging with MRI and CT: An Image Pattern Approach (Vol. 9780521119443, pp. 69–70). Cambridge University Press. https://doi.org/10.1017/CBO9781139030854.035

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