GM2 gangliosidosis in British Jacob sheep.

Abstract

GM2 gangliosidosis (Tay-Sachs disease) was diagnosed in 6- to 8-month-old pedigree Jacob lambs from two unrelated flocks presenting clinically with progressive neurological dysfunction of 10 day's to 8 week's duration. Clinical signs included hindlimb ataxia and weakness, recumbency and proprioceptive defects. Histopathological examination of the nervous system identified extensive neuronal cytoplasmic accumulation of material that stained with periodic acid--Schiff and Luxol fast blue. Electron microscopy identified membranous cytoplasmic bodies within the nervous system. Serum biochemistry detected a marked decrease in hexosaminidase A activity in the one lamb tested, when compared with the concentration in age matched controls and genetic analysis identified a mutation in the sheep hexa allele G444R consistent with Tay-Sachs disease in Jacob sheep in North America. The identification of Tay-Sachs disease in British Jacob sheep supports previous evidence that the mutation in North American Jacob sheep originated from imported UK stock.

• Authors: M E Wessels, J P Holmes, M Jeffrey, M Jackson, A Mackintosh, E H Kolodny, B J Zeng, C B Wang, S F E Scholes
• Journal: Journal of comparative pathology (J Comp Pathol) 2014 Feb-Apr Vol. 150 Issue 2-3 Pg. 253-7 ISSN: 1532-3129 [Electronic] England
• PMID: 24309906 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

Chemical References

• beta-Hexosaminidase alpha Chain

Topics

• Animals
• Gangliosidoses, GM2 (genetics, pathology, veterinary)
• Mutation
• Sheep
• Sheep Diseases (genetics, pathology)
• beta-Hexosaminidase alpha Chain (genetics)