Globoid cell leukodystrophy (GCL0, known as Krabbe's disease in humans, is a degenerative disease of the brain and spinal cord associated with gradual and symmetrical destruction of the white matter of the brain. The disease results from a genetic deficiency of the enzyme galactocerebrosidase (GALC) involved in the breakdown of certain fats in the brain and spinal cord. Its name is derived from the characteristic storage cells found around cerebral blood vessels in the white matter of affected animals. This condition is fatal.
Globoid cell leukodystrophy seems to affect a small number of related Irish setters and Dalmatians. Other dog breeds reported with GCL include Pomeranian, Miniature Poodle, Basset Hound, Beagle, West Highland White Terrier, Cairn Terrier, and coonhounds. The disease has also been seen in domestic shorthaired kittens in which it causes progressive degeneration of the nervous system and death between early in life.
Signs begin early in life and progress rapidly and include weakness, stumbling, loss of control of the hindquarters, and tail tremors. Then the dog will develop a wide stance, lack of coordination, and hind or total limb paralysis. He may become blind or fail to recognize familiar individuals. GCL may occur as early as 4 weeks of age and nearly always occurs before 5 to 6 months of age. The typical clinical signs and measurement of the main activity of galactocerebrosidase (GALC) enzyme in white blood cells will confirm a positive diagnosis.
An accurate blood test using DNA technology is now available to concerned breeders. It can effectively identify a dog as a carrier, as affected, or as clear of the disease. Testing a small blood sample identifies "carriers," whose offspring have a 50% chance of carrying the gene, but who will themselves be clear. Breeders should test any dog in their breeding program to determine whether or not he's a carrier. This important tool is an opportunity to minimize the number of carriers in the Westie population and eventually eliminate GCL altogether. Any bloodline contaminated with the defective gene will produce affected puppies.
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