American Staffordshire Terrier Neurodegenerative Disease Gene Discovered

North Carolina State University announced that they have discovered the gene for neuronal ceroid lipofuscinoses (NCLs), a family of diseases that plagues American Staffordshire Terriers or Am Staffs. The human equivalent of NCLs is called Kufs disease. It is hoped that treatments for NCLs in dogs could lead to treatments for the rare but deadly Kufs disease in adult humans. NCLs also occur in lovebirds, cattle, horses, cats, sheep and goats.

Why Am Staffs?

NCLs kills at least one in 400 registered Am Staffs per year. An unknown number of unregistered dogs and dogs from other breeds die per year. Unfortunately, dogs carrying this recessive gene do not show symptoms until they are at least five years old. Dogs may be in breeder's kennels merrily making more infected puppies until they are diagnosed. But now a genetic test should soon be available to test all breeding stock for NCLs.

Although many other species and dog breeds suffer from NCLs, none mimic Kufs disease as closely as does NCL in the American Staffordshire terrier, notes study researcher D. Natasha Olby. It has not been possible to locate the gene for Kufs in people (although it seems to be mutations on the PPT1 gene), but the location of the gene mutation for Am Staffs may finally help scientists locate the gene in people.

About NCLs

NCLs are fatal and incurable. The diseases kill brain neurons in the cerebellum and causes the brain to shrink. Dogs develop coordination problems, blindness, dementia, seizures and die. The genes that cause NCLs in dogs differ from breed to breed. Although there are gene tests available for four breeds, none exists for the American Staffordshire terrier. Breeds with available gene tests are:

• American bulldog
• Border collie
• Longhaired dachshund
• Tibetan terrier

Other dog breeds affected by NCLs that do not currently have genetic tests include:

• Australian cattle dog
• Australian shepherd
• Chihuahua
• Cocker spaniel
• Dalmatian
• English setter
• Golden retriever
• Japanese retriever
• Labrador retriever
• Miniature schnauzer
• Pit bull
• Polish Lowland sheepdog
• Saluki
• Welsh corgi

About Kufs Disease

Kufs disease, which is only one NCL known in humans, affects 1 or 2 people out of every 100,000. There are two known types of Kufs disease, but both types usually do not first appear until a person is in his or her 30's. Within ten years, they are dead. Kufs disease is notoriously difficult to diagnose because beginning symptoms are similar to multiple schlerosis, epilepsy or mental disorders.

References

Science Daily. "Gene responsible for neurodegenerative disease in dogs, possibly in humans, discovered." August 24, 2011. http://www.sciencedaily.com/releases/2010/08/100824103533.htm

Canine Genetic Diseases Network. "Neuronal Canine Ceroid Lipofuscinoses Basics." http://www.caninegeneticdiseases.net/CL_site/basicCL.htm

U.S. National Library of Medicine. "Kufs Disease." August 15, 2011. http://ghr.nlm.nih.gov/condition/kufs-disease