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Globoid Cell Leukodystrophy
Breed: West Highland White Terrier
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Globoid Cell Leukodystrophy
OMIA
578
Gene Name
GALC
Mutation
c.473A>C
Mutation 2
c.ins790_791 78bp
Test Type
Genetic Disease/Disorder
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
HSP Test-Specific Data
Zoolyx
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. Pub
Application in the Breed
Carriers may be bred to normal animals (N/gcl x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/gcl x N/gcl) nor of affected animals (gcl/gcl). Problems walking, tremors, weakness, blindness and paralysis (6 months of age - usually humanely euthanized)
Inheritance
AR
FCI Number
85
GTP Breed
West Highland White Terrier
VHL Genetics/ Combibreed
VetGen LLC
Progènes-ADN
PharmaDNA
Paw Print Genetics
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. Pub
Application in the Breed
Carriers may be bred to normal animals (N/gcl x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/gcl x N/gcl) nor of affected animals (gcl/gcl). Problems walking, tremors, weakness, blindness and paralysis (6 months of age - usually humanely euthanized)
Inheritance
AR
FCI Number
85
GTP Breed
West Highland White Terrier
Laboratorios Labocor S.L.
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C; c.ins790_791 78bp
Nature of test
mutation test
FCI Number
85
GTP Breed
West Highland White Terrier
INNO
Independent Veterinary Laboratory POISK
Genomia s.r.o
EVG Diagnostics
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. Pub
Application in the Breed
Carriers may be bred to normal animals (N/gcl x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/gcl x N/gcl) nor of affected animals (gcl/gcl). Problems walking, tremors, weakness, blindness and paralysis (6 months of age - usually humanely euthanized)
Inheritance
AR
FCI Number
85
GTP Breed
West Highland White Terrier
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. Pub
Application in the Breed
Carriers may be bred to normal animals (N/gcl x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/gcl x N/gcl) nor of affected animals (gcl/gcl). Problems walking, tremors, weakness, blindness and paralysis (6 months of age - usually humanely euthanized)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
85
GTP Breed
West Highland White Terrier
CMSCH
Certagen GmbH
BioBank AS
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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:
Application in the Breed
Carriers may be bred to normal animals (N/gcl x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/gcl x N/gcl) nor of affected animals (gcl/gcl). Problems walking, tremors, weakness, blindness and paralysis (6 months of age - usually humanely euthanized)
Inheritance
AR
FCI Number
85
GTP Breed
West Highland White Terrier
