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Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
Pediatr Res 1998; 44(1):74-82PR

Abstract

Mucopolysaccharidosis IIIA (MPS IIIA or Sanfilippo A, McKusick 25290) was diagnosed in two adult wire-haired Dachshund littermates. Clinical and pathologic features paralleled the human disorder; both dogs exhibited progressive neurologic disease without apparent somatic involvement. Pelvic limb ataxia was observed when the dogs were 3 y old and progressed gradually within 1-2 y to severe generalized spinocerebellar ataxia. Mentation remained normal throughout the course of the disease. A mucopolysaccharide storage disorder was indicated in both dogs by positive toluidine blue spot tests of urine. The diagnosis of MPS IIIA was confirmed by documentation of urinary excretion and tissue accumulation of heparan sulfate and decreased sulfamidase activity in fibroblasts and hepatic tissue. Mild cerebral cortical atrophy and dilation of the lateral ventricles were grossly evident in both dogs. Light microscopically, fibroblasts, hepatocytes, and renal tubular epithelial cells were vacuolated. Within the nervous system, cerebellar Purkinje cells, neurons of brainstem nuclei, ventral and dorsal horns, and dorsal ganglia were distended with brightly autofluorescent, periodic acid-Schiff-positive, sudanophilic material. Ultrastructurally, visceral storage presented as membrane-bound vacuoles with finely granular, variably electron-lucent contents. Neuronal storage appeared as membranous concentric whorls, lamellated parallel membrane stacks, or electron-dense lipid-like globules. This represents the first reported animal disease homolog of the human Sanfilippo A syndrome.

Authors+Show Affiliations

College of Veterinary Medicine, University of Georgia, Athens 30602, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

9667374

Citation

Fischer, A, et al. "Sulfamidase Deficiency in a Family of Dachshunds: a Canine Model of Mucopolysaccharidosis IIIA (Sanfilippo A)." Pediatric Research, vol. 44, no. 1, 1998, pp. 74-82.
Fischer A, Carmichael KP, Munnell JF, et al. Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Pediatr Res. 1998;44(1):74-82.
Fischer, A., Carmichael, K. P., Munnell, J. F., Jhabvala, P., Thompson, J. N., Matalon, R., ... Giger, U. (1998). Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Pediatric Research, 44(1), pp. 74-82.
Fischer A, et al. Sulfamidase Deficiency in a Family of Dachshunds: a Canine Model of Mucopolysaccharidosis IIIA (Sanfilippo A). Pediatr Res. 1998;44(1):74-82. PubMed PMID: 9667374.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). AU - Fischer,A, AU - Carmichael,K P, AU - Munnell,J F, AU - Jhabvala,P, AU - Thompson,J N, AU - Matalon,R, AU - Jezyk,P F, AU - Wang,P, AU - Giger,U, PY - 1998/7/17/pubmed PY - 1998/7/17/medline PY - 1998/7/17/entrez SP - 74 EP - 82 JF - Pediatric research JO - Pediatr. Res. VL - 44 IS - 1 N2 - Mucopolysaccharidosis IIIA (MPS IIIA or Sanfilippo A, McKusick 25290) was diagnosed in two adult wire-haired Dachshund littermates. Clinical and pathologic features paralleled the human disorder; both dogs exhibited progressive neurologic disease without apparent somatic involvement. Pelvic limb ataxia was observed when the dogs were 3 y old and progressed gradually within 1-2 y to severe generalized spinocerebellar ataxia. Mentation remained normal throughout the course of the disease. A mucopolysaccharide storage disorder was indicated in both dogs by positive toluidine blue spot tests of urine. The diagnosis of MPS IIIA was confirmed by documentation of urinary excretion and tissue accumulation of heparan sulfate and decreased sulfamidase activity in fibroblasts and hepatic tissue. Mild cerebral cortical atrophy and dilation of the lateral ventricles were grossly evident in both dogs. Light microscopically, fibroblasts, hepatocytes, and renal tubular epithelial cells were vacuolated. Within the nervous system, cerebellar Purkinje cells, neurons of brainstem nuclei, ventral and dorsal horns, and dorsal ganglia were distended with brightly autofluorescent, periodic acid-Schiff-positive, sudanophilic material. Ultrastructurally, visceral storage presented as membrane-bound vacuoles with finely granular, variably electron-lucent contents. Neuronal storage appeared as membranous concentric whorls, lamellated parallel membrane stacks, or electron-dense lipid-like globules. This represents the first reported animal disease homolog of the human Sanfilippo A syndrome. SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/9667374/Sulfamidase_deficiency_in_a_family_of_Dachshunds:_a_canine_model_of_mucopolysaccharidosis_IIIA__Sanfilippo_A__ L2 - http://dx.doi.org/10.1203/00006450-199807000-00012 DB - PRIME DP - Unbound Medicine ER -