Globoid cell leukodystrophy Terrier type (GLD)

47.90 € inc. Vat

Acronyms: GLD
Gene: GALC
Mutation: Point mutation
Mode of inheritance: Autosomal recessive
Breeds: Cairn Terrier, West Highland White Terrier

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SKU: CD020 Categories: , Tags: ,

Product Description

Globoid cell leukodystrophy Terrier type, also known as Krabbe disease, is a neurological disease caused by mutation in the gene for galactocerebrosidase (GALC), enzyme responsible for the lysosomal degradation of specific galactolipids including several important in the production of compact, stable myelin. There is some variability in the onset of clinical signs in affected dogs, ranging from 6 to 20 weeks of age. Symptoms are progressive and include blindness, tremors, incontinence and severe hind leg weakness. MRI findings are abnormal.

 

References:

Wenger, D.A., Victoria, T., Rafi, M.A., Luzi, P., Vanier, M.T., Vite, C., Patterson, D.F., and Haskins, M.H. (1999). Globoid cell leukodystrophy in cairn and West Highland white terriers. J. Hered. 90, 138–142.