{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:05:31Z","timestamp":1790978731055,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2003,7,1]],"date-time":"2003-07-01T00:00:00Z","timestamp":1057017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis III (MPS III) is characterized by lysosomal accumulation of the glycosaminoglycan (GAG) heparan sulphate (HS). In humans, the disease manifests in early childhood, and is characterized by a progressive central neuropathy leading to death in the second decade. This disease has also been described in mice (MPS IIIA and IIIB), dogs (MPS IIIA), emus (MPS IIIB) and goats (MPS IIID). We now report on dogs with naturally occurring MPS IIIB, detailing the clinical signs, diagnosis, histopathology, tissue enzymology and substrate levels. Two 3\u2010year\u2010old Schipperke dogs were evaluated for tremors and episodes of stumbling. Examination of the animals found signs consistent with cerebellar disease including dysmetria, hind limb ataxia and a wide\u2010based stance with truncal swaying. There were mildly dystrophic corneas and small peripheral foci of retinal degeneration. Magnetic resonance imaging of the brain and skeletal radiographs were normal. Intracytoplasmic granules were found in the white cells of peripheral blood and cerebral spinal fluid, and in myeloid lineages in bone marrow. Electrophoresis of urinary GAGs indicated the presence of HS, while assays of cultured fibroblasts found <jats:italic>N<\/jats:italic>\u2010acetyl\u2010\u03b1\u2010D\u2010glucosaminidase (Naglu) activity of between 4.3% and 9.2% of normal. Owing to neurological deterioration, both dogs were euthanized, and post\u2010mortem examinations were performed. Biochemical studies of liver and kidney from both animals demonstrated profound deficiency of Naglu activity and abnormally high GAG levels. Pathology of the brain included severe cerebellar atrophy, Purkinje cell loss, and cytoplasmic vacuolation in neurons and perithelial cells throughout the central nervous system. Pedigree analyses and Naglu levels of family members supported an autosomal recessive mode of inheritance. Using an obligate heterozygote, a breeding colony has been established to aid in understanding the pathogenesis of MPS IIIB and testing of potential therapies.<\/jats:p>","DOI":"10.1023\/a:1025177411938","type":"journal-article","created":{"date-parts":[[2003,9,16]],"date-time":"2003-09-16T22:25:03Z","timestamp":1063751103000},"page":"489-504","source":"Crossref","is-referenced-by-count":74,"title":["A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): <i>N<\/i>\u2010acetyl\u2010\u03b1\u2010D\u2010glucosaminidase deficiency in Schipperke dogs"],"prefix":"10.1002","volume":"26","author":[{"given":"N. M.","family":"Ellinwood","sequence":"first","affiliation":[{"name":"Department of Pathobiology University of Pennsylvania  Philadelphia Pennsylvania"},{"name":"Department of Clinical Studies, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Clinical Studies, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Skeen","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences North Carolina State University  Raleigh North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. J. H.","family":"Sharp","sequence":"additional","affiliation":[{"name":"Carolina Veterinary Specialists  Greensboro North Carolina USA"},{"name":"Animal Critical Care Group of Vancouver  Burnaby British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cesta","sequence":"additional","affiliation":[{"name":"Department of Molecular Biomedical Sciences North Carolina State University  Raleigh North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Decker","sequence":"additional","affiliation":[{"name":"Department of Molecular Biomedical Sciences North Carolina State University  Raleigh North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. 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N.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Bush","sequence":"additional","affiliation":[{"name":"Department of Clinical Studies, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania"},{"name":"Veterinary Referral Assoc. Inc.  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Hardam","sequence":"additional","affiliation":[{"name":"Department of Pathobiology University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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