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Morbus Niemann-Pick Typ C (subakute neuroviscerale Lipidose)

Zur Frage der veränderten Sphingomyelinase-Aktivität im Gehirn

Niemann-pick disease type C (subacute neurovisceral lipidosis)

Problems of altered sphingomyelinase activity in the brain

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Summary

One fetus (20 weeks old) and two postnatal cases with Niemann-Pick disease type C (a group of unclear neurovisceral lipidoses characterized by foam cells in the bone marrow and sometimes supranuclear ophthalmoplegia) were studied with respect to the pH-dependency of brain sphingomyelinase activity. A distinct reduction of activity in the pH 5 range of the fetus was contrary to an almost normal pH profile in the postnatal cases including the sibling of the fetus. The sphingomyelinase anomaly does not seem to reflect the genetic defect, since it is paralleled by a similar anomaly of glucocerebrosidase activity. A pathologic subcellular localization of more than one lipid hydrolasis is discussed.

Zusammenfassung

Bei einem pränatalen und zwei postnatalen Fällen von M. Niemann-Pick Typ C (Gruppe unklarer neurovisceraler Lipidosen mit Speicherzellen im Knochenmark; teils mit supranucleärer Ophthalmoplegie) werden pränatal starke (Mangel in der Gegend von pH 5), postnatal auch bei dem Geschwister des pränatalen Falls jedoch nur noch geringe Veränderungen des pH-Profils der Sphingomyelinase-Aktivität aus Gehirn beschrieben. Die Abweichungen scheinen nicht den primären genetischen Defekt zu spiegeln, denn sie werden zum Teil von der Glucocerebrosidase-Aktivität nachgeahmt. Eine mehrere lysosomale Lipidhydrolasen gleichzeitig betreffende Störung der subcellularen Lokalisation wird diskutiert.

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Authors and Affiliations

  1. Institut fur Hirnforschung der Universität, Belthlestr. 15, D-7400, Tubingen, Bundesrepublik Deutschland

    K. Harzer & J. Peiffer

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  1. K. Harzer
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  2. J. Peiffer
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Danksagung. Für die Vermittlung des Falls E.R. sei den Kollegen Bierich und Hanefeld (Universitätskliniken Tübingen und Berlin) gedankt. Die technische Assistenz von Frau I. Schuster war sehr sorgfältig.

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Harzer, K., Peiffer, J. Morbus Niemann-Pick Typ C (subakute neuroviscerale Lipidose). Arch Psychiatr Nervenkr 230, 71–79 (1981). https://doi.org/10.1007/BF00343769

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  • DOI: https://doi.org/10.1007/BF00343769

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