Globoid Cell Leukodystrophy (GCL)


Description: Globoid Cell Leukodystrophy (synonym: Krabbe's disease) is a degenerative disease of the white matter of the brain and spinal cord. Segmental degeneration of some peripheral nerves may also occur. It is the result of a genetic deficiency of an enzyme (galactocerebroside b-galactosidase) that is involved in the breakdown of certain lipids (fats) in the brain and spinal cord. Clinical signs begin early in life and progress rapidly. Lack of coordination, weakness, stumbling, loss of control of the hindquarters, and tail tremors may be observed. Then the dog will develop a wide stance, incoordination, and posterior or total limb paralysis. The dog may become blind or fail to recognize familiar individuals. The response to painful stimuli is generally unaffected.

Age of Onset: The disease may occur as early as 4 weeks of age and nearly always before 5 - 6 months of age.

Diagnosis: The typical clinical signs along with characteristic histopathologic findings at autopsy in appropriate breeds are diagnostic. In addition, antemortem (before death) diagnosis can be made by measuring the mean galactocerebroside b-galactosidase enzyme activity in white blood cells. Furthermore, heterozygotes can be identified, since affected dogs have about 18% and carriers about 51% of the mean activity found in the cells of normal dogs.

Treatment: There is no treatment, and the disease is invariably fatal.

Mode of Inheritance: In Westies and Cairns, the disease is known to be autosomal recessive, as it is in humans and probably in other breeds of dogs. Carriers can be detected by measuring the mean galactocerebroside b-galactosidase enzyme activity in white blood cells.

The disease occurs in West Highland White and Cairn Terriers, Miniature Poodles, Beagles, Blue Tick and Basset Hounds, and Pomeranians.

Test for GCL: An accurate blood test (using DNA technology) is now available to concerned Westie and Cairn breeders. GCL is inherited as an autosomal recessive trait. This new test can accurately identify a dog as being a carrier, an affected, or clear of the disease.

What your veterinarian must do:

  1. Draw 4 cc's (or more) of blood from your dog.
  2. The blood sample should be Heparinized Blood (green top tube); mix gently but well.
  3. The test tube should be identified with the name of the dog, the name of the owner, the name of the veterinarian, and the breed (Westie, Cairn, etc.).
  4. Pack at room temperature in an insulated (foam) box.
  5. Include in the box the identity of the owner and the dog being tested, the breed, the name and address of the veterinarian who is to get the report, and a check for $75, payable to Dr. David Wenger.
  6. Ship by Federal Express overnight mail on Monday through Thursday.
  7. Send to: David Wenger, M.D., Jefferson Medical College, Department of Neurology, 1020 Locust Street, Room 394, Philadelphia, PA 19107

Why is this test important? Prior to this test being developed, an accurate diagnosis of affected dogs was only possible by autopsy. Now, a small blood sample can be used to identify dogs which carry the gene (each offspring will have a 50% chance of carrying the gene), and which are clear. If you suspect that this disease occurs in your pedigree, you can be sure that you will not produce a puppy with this fatal disease by utilizing the blood test. This disease is not prevalent in our breed, and by utilizing this test, we can eliminate the disease and minimize the number of carriers in the Westie and Cairn population.

Why was this test developed? Dr. Wenger has developed a DNA test for GCL in humans and is working on developing a gene "fix" for affected children. The original Westie work on this project was done in cooperation with Kathy Norris Kompare (Kilkerran Westies).

Go to other Organs/Blood System/Nervous System diseases page:



***Disclaimer***

Any information contained on this site relating to various medical, health, and fitness conditions of Westies and their treatment is for informational purposes only and is not meant to be a substitute for the advice provided by your own veterinarian. You should not use the information contained herein for diagnosing a Westie's health - you should always consult your own veterinarian.


Home/ Breed Information/ WHWTCA Information/ Team Westie/
National Westie Rescue/ Health & Behavior/ Regional Westie Clubs/
Activities for You and Your Westie/ Links/ Site Map