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Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency

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Developmental Neuropathology

Abstract

Metachromatic leukodystrophy was first described in adults. Alzheimer (1910) gave an abstract of a patient with white matter disease and abundant, brightly metachromatic deposits in glial cells. Witte (1921) recognized the accumulation of metachromatic granules in neurons and in liver, kidney, gallbladder, anterior pituitary and testes; he suggested in vivo diagnosis from metachromatic material in the urine. Kaltenbach (1922) gave the first detailed account of the white matter lesions. These early reports of essential features of the disease had little impact, as the chemistry of metachromasia was not understood, and its significance for classification not realized. Subsequent descriptions of infantile metachromatic leukodystrophy emphasized less specific criteria, such as familial occurrence, the age of onset, the rate of progression, the interpretation of the metachromatic deposits as “prelipoids”, or a selective damage to Oligodendroglia. Brain and Greenfield (1950) defined the late infantile course of the disease, and they identified metachromasia of the deposits as its key feature.

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  1. Zentrum Neurologische Medizin, Abteilung Neuropathologie, Georg-August-Universität Göttingen, Robert-Koch-Straße 40, 3400, Göttingen, Germany

    Reinhard L. Friede

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  1. Reinhard L. Friede
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© 1989 Springer-Verlag Berlin Heidelberg

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Friede, R.L. (1989). Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency. In: Developmental Neuropathology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-73697-1_36

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  • DOI: https://doi.org/10.1007/978-3-642-73697-1_36

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-73699-5

  • Online ISBN: 978-3-642-73697-1

  • eBook Packages: Springer Book Archive

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