Neuronal Ceroid Lipofuscionsis (10)



Neuronal Ceroid Lipofuscinosis 10 (Bulldog Type)

Turnaround: 3-5 days

US: $45.00 | UK: £40.00

Breeds: Alapaha Blue Blood Bulldog, American Bulldog, American Bully, Exotic Bully, Mixed Breed, Unspecified

Description

There are many forms of Neuronal Ceroid Lipofuscinosis (NCL). NCL results in progressive degeneration of the central nervous system (CNS). Neurological signs of NCL include:

  • mental dullness
  • ataxia
  • loss of vision
  • weakness
  • abnormal gait
  • seizures
  • tremors
  • aggressive behaviors

There are many forms of NCL. NCL-10 occurs primarily in American Bulldogs. The types of NCL are assigned numbers in order to differentiate between symptoms and breeds affected. Animal Genetics has additional tests for NCL-2 and NCL-5.

In American Bulldogs, a mutation in the Cathepsin D gene (CTSD) causes a form of NCL. The CTSD gene codes for the protein, cathepsin D. This protein acts as a sort of digestive enzyme in order to break down proteins for cell functions. The disease in American Bulldogs is different from classical late-infantile onset NCL. In American Bulldogs, clinical signs develop between 1 and 3 years of age and slowly progress over several years.

Dogs that are carriers of NCL-10 have a 50% chance of passing NCL-10 to their offspring. It is important to test before breeding to determine if either member is a carrier of NCL-10. If both dogs are carriers of NCL-10, there is a 25% chance per puppy that it will receive two copies of the recessive gene and develop symptoms of NCL-10.

Possible Results

Genotype Description
NCL/NCL Affected: Dog has two copies of the NCL-10 mutation and will be affected. The gene will be passed on to every offspring.
n/NCL Carrier: Dog has one copy of the NCL-10 mutation. The gene may be passed on to offspring.
n/n Clear: Dog is negative for mutation associated with NCL-10.

Reference

Awano T, Katz ML, O'Brien DP, Taylor JF, Evans J, Khan S, Sohar I, Lobel P, Johnson GS. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab. 2006 Apr; 87(4):341-8. [PubMed: 16386934]

Evans J, Katz ML, Levesque D, Shelton GD, de Lahunta A, O'Brien D. A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med. 2005 Jan-Feb; 19(1):44-51. [PubMed: 15715047]