Neuronal Ceroid Lipofuscinosis (NCL) in Golden Retrievers
Neuronal Ceroid Lipofuscinosis is a progressive degenerative disease of the central nervous system. In Golden Retrievers, NCL is caused by a two base pair deletion in the CLN5 gene. This causes a frameshift in the genetic coding, leading to a premature termination codon.
Golden Retrievers with NCL begin to develop signs of the disease around 13 months old. Often the first sign of NCL is a loss of coordination during basic movements including walking, running, and climbing stairs. Sings of the disease are particularly noticeable when the dog is excited. As the disease progresses, the loss of coordination becomes evident even when the dogs is calm; the dogs may also experience tremors, seizures, or blindness. Compulsive behaviors, anxiety, and loss of previously learned behavior is also common. Affected dogs may also become agitated or aggressive as the disease continues to progress. Due to the severity of the disease and loss of quality of life, most affected dogs are euthanized by 2-3 years of age.
Because NCL is recessive, a dog must inherit a copy of the mutation from each parent in order to be affected. No signs of NCL will appear if the dog has only one copy of the mutation, although it will be a carrier of the disease. When breeding two carriers together, there is a 25% chance per puppy born that it will develop symptoms of NCL.
Acceptable Sample Types:
Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.
This Test Is Relevant For the Following Breeds:
- Golden Retrievers
Animal Genetics offers DNA testing for Neuronal Ceroid Lipofuscinosis in Golden Retrievers. The genetic test verifies the presence of the known NCL mutation and presents results as one of the following:
|NCL/NCL||Affected||The dog carries two copies of the mutant CLN5 gene and is homozygous for NCL. The dog is affected.|
|n/NCL||Carrier||Both the normal and mutant copies of the CLN5 gene detected. Dog is a carrier for the Neuronal Ceroid Lipofuscinosis and can pass on a copy of the defective gene to its offspring 50% of the time.|
|n/n||Clear||Dog tested negative for the mutant CLN5 gene and will not pass on the defective gene to its offspring.|