AIM: To investigate the nature of a progressive ataxia in a New Zealand Huntaway dog. METHODS: The affected dog was examined clinically before being humanely killed and necropsied. Selected tissues were submitted to light and electron microscopy and to biochemical analyses. RESULTS: The histological lesions were interpreted as indicative of one of the forms of mucopolysaccharidosis type-III (MPS-III), a lysosomal storage disease. Biochemically there was a deficiency of heparan sulphamidase. All the heparan sulphate chains had non-reducing-end glucosamine-N-sulphate residues. CONCLUSION: The disease is MPS-IIIA (Sanfilippo syndrome). An autosomal recessive mode of inheritance can be provisionally assumed from the nature of this disease in other species.
AIM: To investigate the nature of a progressive ataxia in a New Zealand Huntaway dog. METHODS: The affected dog was examined clinically before being humanely killed and necropsied. Selected tissues were submitted to light and electron microscopy and to biochemical analyses. RESULTS: The histological lesions were interpreted as indicative of one of the forms of mucopolysaccharidosis type-III (MPS-III), a lysosomal storage disease. Biochemically there was a deficiency of heparan sulphamidase. All the heparan sulphate chains had non-reducing-end glucosamine-N-sulphate residues. CONCLUSION: The disease is MPS-IIIA (Sanfilippo syndrome). An autosomal recessive mode of inheritance can be provisionally assumed from the nature of this disease in other species.
Authors: Leanne K Winner; Neil R Marshall; Robert D Jolly; Paul J Trim; Stephen K Duplock; Marten F Snel; Kim M Hemsley Journal: JIMD Rep Date: 2018-06-20
Authors: Barbara King; Neil Marshall; Helen Beard; Sofia Hassiotis; Paul J Trim; Marten F Snel; Tina Rozaklis; Robert D Jolly; John J Hopwood; Kim M Hemsley Journal: J Inherit Metab Dis Date: 2014-11-25 Impact factor: 4.982
Authors: Barbara King; Neil R Marshall; Sofia Hassiotis; Paul J Trim; Justin Tucker; Kathryn Hattersley; Marten F Snel; Robert D Jolly; John J Hopwood; Kim M Hemsley Journal: J Inherit Metab Dis Date: 2016-11-10 Impact factor: 4.982
Authors: N M Ellinwood; P Wang; T Skeen; N J H Sharp; M Cesta; S Decker; N J Edwards; I Bublot; J N Thompson; W Bush; E Hardam; M E Haskins; U Giger Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982