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Globoid Cell Leukodystrophy/Krabbe’s Disease

Globoid Cell Leukodystrophy/Krabbe’s Disease

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Test Overview:

Globoid cell leukodystrophy, or Krabbe disease, is a severe, autosomal recessive disorder resulting from a deficiency of galactocerebrosidase (GALC) activity. This is a type of storage disease seen in the West Highland white terrier and is inherited as an autosomal recessive disease. It is seen in young animals, who lack a critical enzyme in brain cells, resulting in accumulation of an abnormal substance within certain cells in the brain. Affected animals are born normal, but changes are normally seen by 11 – 30 weeks of age. The white matter of the cerebrum and cerebellum is affected, and on brain scans appears much reduced in size. This results in muscle weakness and ataxia (incoordination in the gait) which starts in the hind limbs and later moves to the front legs. Muscle tremors are seen, pups have trouble standing or walking, and behavioural changes can also occur. This disease is rapidly progressive, and will be fatal in the breed within a few months. There is no cure, but a DNA test is available to enable screening of animals prior to breeding. This should allow for prevention of the condition by not breeding two carriers together

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Galactosylceramidase (GALC) on Chromosome 8

Variant Detected:

Base Substitution c.473A>C p.Tyr158Ser

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Victoria, T. et al. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. (1996) Genomics. 33;457-462

Associated Breed(s):

Australian Terrier, Cairn Terrier, Dalmatian, Irish Setter, Labradoodle , Mixed Breed, Pomeranian, Spoodle, West Highland White Terrier ,

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