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Abstract

An 11-week-old male dachshund and its 13-week-old female sibling presented with slowly progressive gait abnormalities, cerebellar ataxia and intention head tremor. In the pedigree of their parents, there were no signs of these neurological abnormalities. The magnetic resonance imaging scan results, ...

Author(s)
Pausova, T. K.; Rosati, M.; Tomek, A.
Publisher
Wiley, Chichester, UK
Citation
Veterinary Record Case Reports, 2022, 10, 2,
Abstract

Mouse models of human disease remain the bread and butter of modern biology and therapeutic discovery. Nonetheless, more often than not mouse models do not reproduce the pathophysiology of the human conditions they are designed to mimic. Naturally occurring large animal models have predominantly...

Author(s)
Story, B. D.; Miller, M. E.; Bradbury, A. M.; Million, E. D.; Duan DongSheng; Taghian, T.; Faissler, D.; Fernau, D.; Beecy, S. J.; Gray-Edwards, H. L.
Publisher
Frontiers Media S.A., Lausanne, Switzerland
Citation
Frontiers in Veterinary Science, 2020, 6, March,
Abstract

350 Cairn terriers were screened for the mutation causing globoid cell leukodystrophy (GLD). More than 50 were identified as carriers and 5 were used to establish a colony at the University of Pennsylvania. Affected dogs from this colony and an affected West Highland White terrier (WHWT) were...

Author(s)
Wenger, D. A.; Victoria, T.; Rafi, M. A.; Luzi, P.; Vanier, M. T.; Vite, C.; Patterson, D. F.; Haskins, M. H.
Citation
Journal of Heredity, 1999, 90, 1, pp 138-142
Abstract

A 10-week-old West Highland White Terrier in Germany was presented for diagnostic work-up because of paraparesis und persistent scratching. The dog underwent a complete neurological examination as well as a brain scan using a 0.5 Tesla MRI. The same anaesthesia was used to measure brain stem...

Author(s)
Flegel, T.; Matiasek, K.; Henke, D.; Grevel, V.
Publisher
Schattauer GmbH, Stuttgart, Germany
Citation
Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere, 2008, 36, 5, pp 351-356
Abstract

Objective - To characterize the clinical signs of globoid cell leukodystrophy (GLD) in Australian Kelpies from a working line (AWKs) and determine whether an association existed between these signs and degrees of demyelination and inflammatory responses in affected brains. Design - Case-control...

Author(s)
Fletcher, J. L.; Williamson, P.; Horan, D.; Taylor, R. M.
Publisher
American Veterinary Medical Association, Schaumburg, USA
Citation
Journal of the American Veterinary Medical Association, 2010, 237, 6, pp 682-688
Abstract

Globoid cell leukodystrophy in humans is caused by a deficiency of galactocerebrosidase (GALC) activity. A dog testes cDNA library was amplified using primers designed on the basis of human GALC cDNA and sequenced. The sequence comprised a 2007-bp coding region. The coding region had 88% nucleotide ...

Author(s)
Victoria, T.; Rafi, M. A.; Wenger, D. A.
Citation
Genomics (San Diego), 1996, 33, 3, pp 457-462
Abstract

A six-month-old West Highland white terrier with progressive, multifocal neurological disease was diagnosed with canine globoid cell leukodystrophy (GCL). Magnetic resonance imaging (MRI) of the brain was performed, as well as electrophysiological testing (including brainstem auditory evoked...

Author(s)
Cozzi, F.; Vite, C. H.; Wenger, D. A.; Victoria, T.; Haskins, M. E.
Citation
Journal of Small Animal Practice, 1998, 39, 8, pp 401-405
Abstract

Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a progressive autosomal recessive disorder of the central nervous system in man and in various other species. GLD has been shown to result from various mutations in the gene encoding galactocerebrosidase (GALC), a lysosomal enzyme. We...

Author(s)
McGraw, R. A.; Carmichael, K. P.
Publisher
Elsevier, Amsterdam, Netherlands
Citation
Veterinary Journal, 2006, 171, 2, pp 370-372
Abstract

Clinical signs and lesions in the central and peripheral nervous system (including the presence of globoid macrophages containing PAS-positive material in their cytoplasm, and demyelination and degeneration of axons) developed in all 4 puppies of one litter and in 1 puppy of another litter (none of ...

Author(s)
Čada, F.; Huml, O.; Böhm, K.; Helebrant, M.; Svatoš, M.
Citation
Veterinářství, 1998, 48, 2, pp 58-60
Abstract

The kidney of a 7-month-old male Cairn terrier with globoid cell leukodystrophy (GLD) was investigated with light and electron microscopes. A few tubular epithelial cells in the inner medulla as well as some exfoliated cells in the lumina revealed PAS-positive cytoplasm in which needle-like...

Author(s)
Suzuki, K.
Citation
Acta Neuropathologica, 1986, 69, 1/2, pp 33-37

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