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Globoid Cell Leukodystrophy

General

Disease Name
Globoid Cell Leukodystrophy
Disease Name 2
Krabbe Disease
OMIA
578
Gene Name
GALC
Mutation
c.473A>C
Mutation 2
c.ins790_791 78bp
OMIM
245200
Disease Code
GLD
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Krabbe Disease, Galactosylceramide Lipidosis
Details
Globoid cell leucodystrophy is a lysosomal storage disease. This is a progressive disease with signs including: problems walking, poor weight gain, tremors, behavioral changes, blindness, dementia, paralysis, incontinence. Age of onset 3 - 18 months of age, with increasing severity ususally leading to euthanasia by 2 - 6 months after onset of clinical signs. Definitive diagnosis via DNA testing.
Details 2
Globoid cell leucodystrophy is a lysosomal storage disease that results in neurological disease of dogs characterized by peripheral nerve, spinal cord and cerebellar dysfunction, caused by a mutation in the gene encoding galactocerebrosidase responsible for lysosomal hydrolysis of galactolipids found in myelin. Age of onset 3 - 18 months of age. Symptoms include: poor weight gain, progressive peripheral neuropathy including ataxia, leg crossing, tremors, and exercise induced paresis. This progresses to: behavioral changes, blindness, dementia, anorexia, cachexia, urinary incontinence and quadriparesis, with death occurring 2 - 6 months after onset of clinical signs. Definitive diagnosis via DNA testing.
Published
Victoria, T., Rafi, M.A., Wenger, D.A. : Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers Genomics 33:457-462, 1996. Pubmed reference: 8661004. DOI: 10.1006/geno.1996.0220.
Published 2
Wenger, D.A., Victoria, T., Rafi, M.A., Luzi, P., Vanier, M.T., Vite, C., Patterson, D.F., Haskins, M.H.: Globoid cell leukodystrophy in cairn and West Highland white terriers. Journal of Heredity 90:138-142, 1999. Pubmed reference: 9987921
Published 3
McGraw, RA., Carmichael, KP.: Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J 171:370-2, 2006. Pubmed reference: 16490723. DOI: 10.1016/j.tvjl.2004.10.019
Published 4
Bongarzone, E.R., Escolar, M.L., Gray, S.J., Kafri, T., Vite, C.H., Sands, M.S. : Insights into the Pathogenesis and Treatment of Krabbe Disease. Pediatr Endocrinol Rev 13 Suppl 1:689-96, 2016. Pubmed reference: 27491217.
Body/System/Process
Neuromuscular
Inheritance
AR
Gene Name Text
galactosylceramidase
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