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Ganglioside storage, hexosarninidase lability, and urinary oligosaccharides in adult Sandhoff's disease

Academic Medical Centre, Department of Neurology (Drs. Bolhuis, Kamp, and Ris), Amsterdam, and Streekziekenhuis Waterland (Dr. Oonk), Purmerend, The Netherlands; Université des Sciences et Techniques de Lille I, Laboratoire de Chimie Biologique (Dr. Michalski), Villeneuve d'Ascq, France; and Vrije Universiteit, Medische Chemie (Dr. Overdijk), Amsterdam, and Erasmus University, Department of Cell Biology and Genetics (Dr. Reuser), Rotterdam, The Netherlands.

Two adult sisters with severe spinocerebellar degeneration were deficient in hexosaminidase A and B. GM₂ ganglioside storage in brain tissue obtained by autopsy from one patient was most pronounced in the cerebellum. Hexosaminidase activity in brain tissue was negligibie, but fibroblasts from the second patient contained relatively high amounts of heat-labile activities of both isoenzymes. Pulse-chase experiments showed synthesis of precursor - and ß-chains of hexosaminidase, maturation of the -chain, but only a very small amount of mature ß-chain. These data indicate a destabilizing mutation in the ß-locus. Substrate-specific effects of this mutation were demonstrated by the urinary oligosaccharide pattern.

Address correspondence and reprint requests to Dr. Bolhuis, Academic Medical Centre, Department of Neurology, 1105 A2 Amsterdam, The Netherlands.

Received February 11, 1986. Accepted for publication April 1, 1986.

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