Nature 257, 60 - 62 (04 September 1975); doi:10.1038/257060a0

Genetic heterogeneity in GM1-gangliosidosis

H. GALJAARD^*, A. HOOGEVEEN^*, W. KEIJZER^*, H. A. DE WIT-VERBEEK^*, A. J. J. REUSER^*, MAE WAN HO^† & D. ROBINSON^†

^*Department of Cell Biology and Genetics, Faculty of Medicine, Erasmus University, Rotterdam, The Netherlands
^†Department of Biochemistry, Queen Elizabeth College, University of London, UK

GM1-GANGLIOSIDOSIS is an inherited lysosomal storage disease which is due to a deficiency of the acid hydrolase GM1--galactosidase¹. During the past few years several clinical variants have been described²⁻⁶ that differ in time of onset of symptoms, involvement of visceral organs or skeletal tissue and in the degree of neuronal and mental deterioration. Some of these variants have been related to different properties of the deficient -galactosidases^5,7 but the significance of the experimental data⁸ has been questioned. Several investigators have speculated on the genetic background of the different variants^2,8,9 but no experimental evidence has been provided to support the hypotheses.

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