Sphingomyelinase and Niemann-Pick Disease
Niemann-Pick disease (NPD) is the name given to a group of genetic disorders in which the common feature is a varying degree of sphingomyelin storage in certain tissues. The wide range of clinical heterogeneity led Crocker to suggest in 1961 a classification into four types, A to D, which is still widely used. Schematically, type A refers to cases similar to the original description of Albert Niemann, i.e. an infantile severe neurovisceral form. Patients presenting with a heavy visceral involvement but no neurological symptoms are assigned to type B. In those two types, a severe and generalized deficiency of sphingomyelinase activity has been desmonstrated (for review, see Brady, 1983). There is more confusion for classification of a third group of patients with neurovisceral involvement but a protracted neurological onset, originally subdivided by Crocker into types C and D, and also described in the litterature under other names, among which juvenile NPD, juvenile dystonic lipidosis, neurovisceral disease with vertical supranuclear ophtalmoplegia. In this group, the nature of the primary biochemical lesion remains unknown. None of the postulated defects, lack of a specific sphingomyelinase isoenzyme (Callahan et al., 1974) or of an activator (Christomanou, 1980) has to-date received general acceptance, and it is not even clear at present if such patients belong to a single nosological entity or not. For the sake of simplification, the name NPD type C will be used throughout the present report for designation of the group as a whole.
KeywordsSkin Fibroblast Anionic Phospholipid Culture Skin Fibroblast Liposomal System Sphingomyelinase Activity
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