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Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency

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Developmental Neuropathology

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Abstract

Metachromatic leukodystrophy was first described in adults. Alzheimer (1910) gave a brief abstract of a case which he characterized as a white matter disease with destruction of myelin and abundant, brightly metachromatic deposits in glia cells. Witte (1921) reported similar findings and recognized the accumulation of metachromatic granules in neuronal perikarya and in liver, kidney, gallbladder, anterior pituitary and testes; he suggested that in vivo diagnosis of the disease should be possible from metachromatic material excreted into the urine. Kaltenbach (1922) gave the first detailed description of the histopathology of the white matter lesions. These early descriptions of many of the essential microscopic features of metachromatic leukodystrophy had relatively little impact on its classification in subsequent reports, because the chemistry of metachromasia was not understood, and its significance for the classification of the disease was not realized. Hence, the first descriptions of metachromatic leukodystrophy in infants emphasized other, less specific, criteria such as its familial occurrence, the age of onset or rate of progression, the interpretation of the metachromatic deposits as “prelipoids”, or a high degree of selectivity in the affectation of oligodendroglia. Brain and Greenfield (1950) defined the clinical features of the late infantile course of the disease and deserve the credit for identifying the metachromatic staining of the deposits as the key feature in classifying the disease.

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Authors and Affiliations

  1. Case Western Reserve University, Cleveland, Ohio, USA

    Reinhard L. Friede M.D. (Professor of Neuropathology)

  2. University of Zurich, Switzerland

    Reinhard L. Friede M.D. (Professor of Neuropathology)

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  1. Reinhard L. Friede M.D.
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© 1975 Springer-Verlag Wien

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Friede, R.L. (1975). Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency. In: Developmental Neuropathology. Springer, Vienna. https://doi.org/10.1007/978-3-7091-3338-5_38

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  • DOI: https://doi.org/10.1007/978-3-7091-3338-5_38

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-3340-8

  • Online ISBN: 978-3-7091-3338-5

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