Neuronal Ceroid Lipofuscinosis NCL2 | Animal Genetics

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Early Onset Neuronal Ceroid Lipofuscinosis in Dachshunds (NCL2)

Description:

There are many forms of Neuronal Ceroid Lipofuscinosis Type 2 (NCL2). NCL2 results in progressive degeneration of the central nervous system. Characteristic neurological signs of NCL2 include mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors, and aggressive behaviors.

 

In Dachshunds, a frame shift mutation of TPP1 gene causes an early-onset form of NCL. The disease in Dachshunds is different from classical late-infantile onset NCL. Dogs with NCL2 exhibit progressive neurological signs similar to most of those characteristic of human CLN2.

 

Dogs that are carriers of NCL2 have a 50% chance of passing NCL2 to their offspring. It is important to test before breeding to determine if either member is a carrier of NCL2. If both dogs are carriers of NCL2, there is a 25% chance that the puppy will receive two copies of the recessive gene and develop symptoms of NCL2.

Acceptable Sample Types:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Complimentary sample collection kits are available and can be ordered at Canine Test Now.

This Test Is Relevant For the Following Breeds:

  • Dachshund
  • Miniature Longhaired Dachshund
  • Miniature Smooth Dachshund
  • Miniature Wirehaired Dachshund
  • Standard Longhaired Dachshund
  • Standard Smooth Dachshund
  • Standard Wirehaired Dachshund

Results:

Animal Genetics offers DNA testing for Neuronal Ceroid Lipofuscinosis Type 2 (NCL2). The genetic test verifies the presence of the Neuronal Ceroid Lipofuscinosis mutation and presents results as one of the following:

NCL2/NCL2 Affected The dog carries two copies of the mutant TPP1 gene and is homozygous for Neuronal Ceroid Lipofuscinosis. The dog is affected by NCL2 and will always pass a copy of the mutation to its offspring.
NCL2/n Carrier Both the normal and mutant copies of the TPP1 gene detected. Dog is a carrier for the Neuronal Ceroid Lipofuscinosis mutation and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the Hyperuricosuria mutation and will not pass on the defective gene to its offspring.