Neuronal Ceroid Lipofuscinosis NCL-GR | Animal Genetics

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Neuronal Ceroid Lipofuscinosis (NCL) in Golden Retrievers

Description:

Neuronal Ceroid Lipofuscinosis storage disease is a progressive degeneration disease of the central nervous system. In Golden Retrievers, NCL is caused by a 2 base pair deletion in the CLN5 gene causing causing a frameshift and premature termination codon.

 

Affected Golden Retrievers 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, climbing stairs, particularly when 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.

 

In Golden Retriever NCL is a recessive disease. In a recessive disease, both parents of an affected pup must be carriers of the mutated gene but do not show any symptoms of the disease.

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

Results:

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.