title: 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: AHVLA Preston, Barton Hall, Garstang Road, Barton, Preston PR3 5HE, UK. Electronic address: Mark.Wessels@ahvla.gsi.gov.uk.
authors: M E
authors: ME
authors: Wessels
authors: AHVLA Shrewsbury, Kendal Road, Harlescott, Shrewsbury SY1 4HD, UK.
authors: J P
authors: JP
authors: Holmes
authors: AHVLA Lasswade, Pentlands Science Park, Bush Loan, Penicuik EH26 0PZ, UK.
authors: M
authors: M
authors: Jeffrey
authors: GSTS Pathology, Genetics Centre, Guy's Hospital, London SE1 9RT, UK.
authors: M
authors: M
authors: Jackson
authors: AHVLA Carmarthen, Job's Well Road, Johnstown, Carmarthen SA31 3EZ, UK.
authors: A
authors: A
authors: Mackintosh
authors: Division of Neurogenetics, Department of Neurology, New York University School of Medicine, 400 East 34th Street, Room 311, New York, NY 10016, USA.
authors: E H
authors: EH
authors: Kolodny
authors: Division of Neurogenetics, Department of Neurology, New York University School of Medicine, 400 East 34th Street, Room 311, New York, NY 10016, USA.
authors: B J
authors: BJ
authors: Zeng
authors: Division of Neurogenetics, Department of Neurology, New York University School of Medicine, 400 East 34th Street, Room 311, New York, NY 10016, USA.
authors: C B
authors: CB
authors: Wang
authors: AHVLA Lasswade, Pentlands Science Park, Bush Loan, Penicuik EH26 0PZ, UK.
authors: S F E
authors: SF
authors: Scholes
mesh_terms: D000818:Animals; D020143:Gangliosidoses, GM2 / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D009154:Mutation; D012756:Sheep; D012757:Sheep Diseases / Q000235:genetics / Q000473:pathology*; D054820:beta-Hexosaminidase alpha Chain / Q000235:genetics
chemical_list: D054820:beta-Hexosaminidase alpha Chain
keywords: G(M2) gangliosidosis; Jacob sheep; Tay–Sachs disease