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Neurovisceral and Skeletal G M1 -Gangliosidosis in Dogs with β-Galactosidase Deficiency

1985; American Association for the Advancement of Science; Volume: 229; Issue: 4712 Linguagem: Inglês

10.1126/science.3925555

1095-9203

Joseph Alroy, U. Orgad, Angelo A. Ucci, Scott H. Schelling, Kenneth L. Schunk, Christopher D. Warren, Srinivasa S. Raghavan, Edwin H. Kolodny,

Growth Hormone and Insulin-like Growth Factors

β-galactosidase-deficient siblings in two litters of English springer spaniel puppies showed a progressive neurological impairment, dwarfism, orbital hypertelorism, and dysostosis multiplex. An excess of G M1 -ganglioside was found in the brain. Three abnormal oligosaccharides were present in samples of urine, brain, liver, and cartilage. Light microscopy of selected tissue specimens revealed cytoplasmic vacuoles in neurons, circulating blood cells, macrophages, and chondrocytes. Ultrastructural studies demonstrated that these membrane-bound vacuoles were of two types—one containing lamellated membranes and the other, finely granular material. These clinical and pathological findings are similar to those observed in human patients affected by the infantile form of G M1 -gangliosidosis.