caa a22 4500 465768733 CHVBK 20180323111923.0 cr unu---uuuuu 170327e19901201xx s 000 0 eng 10.1007/BF00334507 doi (NATIONALLICENCE)springer-10.1007/BF00334507 Feline sphingolipidosis resembling Niemann-Pick disease type C [Elektronische Daten] [A. Lowenthal, J. Cummings, D. Wenger, M. Thrall, P. Wood, A. de Lahunta] Summary: A 9-week old domestic short-hair kitten with progressive neurological dysfunction had histopathological lesions consistent with a lysosomal storage disease. Light microscopy of the brain, spinal cord, and ganglia revealed distention and vacuolation of many neuronal populations, and extensive neuroaxonal dystrophy. Large numbers of foamy macrophages were observed in the liver, spleen, lymph nodes, and lung. Hepatocytes appeared pale and swollen. Ultrastructural examination of all affected tissues and organs revealed heterogeneous membranous inclusions. Lipid analysis of liver revealed an excess of cholesterol, glucosylceramide, lactosylceramide and phospholipids including sphingomyelin. There was some increase in the levels of brain GM2 and GM3 gangliosides. Sphingomyelinase activity in liver was partially deficient or low normal. Skin fibroblasts were cultured from two affected cats from the colony established with littermates of the subject of this report. The cultured skin fibroblasts had partially decreased sphingomyelinase activity and a greatly decreased ability to esterify exogenous cholesterol. Clinical, morphological, and biochemical findings suggest that this cat had sphingolipidosis similar to human Niemann-Pick disease type C, a disease not previously described in the cat. The feline form of this storage disease may provide a useful model for studies on the human disease. Springer-Verlag, 1990 Niemann-Pick disease type C nationallicence Neuroaxonal dystrophy nationallicence Lamellar inclusions nationallicence Sphingomyelin nationallicence Feline model nationallicence Lowenthal A. Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, 14853, Ithaca, NY, USA aut Cummings J. Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, 14853, Ithaca, NY, USA aut Wenger D. Department of Medicine (Medical Genetics) and Biochemistry and Molecular Biology, Jefferson Medical College, 19107, Philadelphia, PA, USA aut Thrall M. Department of Pathology, School of Veterinary Medicine and Biomedical Sciences, Colorado State University, 80523, Fort Collins, CO, USA aut Wood P. Department of Comparative Medicine, University of Alabama, 35294, Birmingham, AL, USA aut de Lahunta A. Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, 14853, Ithaca, NY, USA aut Acta Neuropathologica Springer-Verlag 81/2(1990-12-01), 189-197 0001-6322 81:2<189 1990 81 401 https://doi.org/10.1007/BF00334507 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00334507 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lowenthal A. Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, 14853, Ithaca, NY, USA aut NATIONALLICENCE 700 1- Cummings J. Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, 14853, Ithaca, NY, USA aut NATIONALLICENCE 700 1- Wenger D. Department of Medicine (Medical Genetics) and Biochemistry and Molecular Biology, Jefferson Medical College, 19107, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Thrall M. Department of Pathology, School of Veterinary Medicine and Biomedical Sciences, Colorado State University, 80523, Fort Collins, CO, USA aut NATIONALLICENCE 700 1- Wood P. Department of Comparative Medicine, University of Alabama, 35294, Birmingham, AL, USA aut NATIONALLICENCE 700 1- de Lahunta A. Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, 14853, Ithaca, NY, USA aut NATIONALLICENCE 773 0- Acta Neuropathologica Springer-Verlag 81/2(1990-12-01), 189-197 0001-6322 81:2<189 1990 81 401 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer