Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia

Authors: Rozaklis T, Collett MG, Hopwood JJ, Allan FJ, Muller VJ, Jolly RD
Publication: New Zealand Veterinary Journal, Volume 48, Issue 5, pp 144-148, Oct 2000
Publisher: Taylor and Francis

Animal type: Companion animal, Dog
Subject Terms: Locomotor, Disease/defect, Biochemistry/chemistry, Clinical pathology, Diagnostic procedures, Genetics, Inherited disease/conditions, Nervous system/neurology, Pathology
Article class: Scientific Article

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Abstract: 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.
KEY WORDS: Mucopolysaccharidosis IIIA, Sanfilippo syndrome, animal model, heparan sulphamidase, heparan sulphate.

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