Lysosomal storage disease / LSD (CNP-related) - Dalmatian

What does this test analyse?

This genetic test analyses the CNP c.1107del variant for CNP-related lysosomal storage disease in Dalmatians. The condition is also known as LSD, lysosomal storage disease, a neurodegenerative storage disorder and a CNP-related neurological disease. CNP encodes cathepsin P, a lysosomal enzyme involved in protein breakdown inside cells. A frameshift in this gene can disrupt lysosomal function and cause storage of material in nervous tissue.

What does this condition mean?

Affected Dalmatians can develop a progressive neurological disorder. Reported signs include coordination problems, ataxia, tremors, weakness, behavioural changes and deterioration of the nervous system. The condition may become visible later in life and may vary in expression in heterozygous dogs. This makes genetic information valuable before obvious symptoms appear.

Inheritance and result

This CNP-related form is inherited as an autosomal incomplete dominant trait. One copy of the variant can already be clinically relevant, while visibility and severity can differ. Two copies give a strongly variant-positive genotype. The result clarifies whether the dog is clear, heterozygous variant-positive or carries two copies of the tested deletion.

Practical value of this test

• Helps breeders identify variant-positive dogs before neurological problems become visible.
• Supports mating choices and reduces the risk that the variant continues unnoticed in breeding lines.
• Gives owners and veterinarians targeted genetic information when coordination problems, tremors or other neurological signs occur.
• Provides objective documentation for Dalmatians in breeding programmes and health follow-up.

When is this especially useful?

The test is particularly useful for breeding animals, relatives of a known carrier or affected dog, and dogs with neurological signs where an inherited cause should be considered. Because the disorder can be progressive, a clear DNA result supports selection, follow-up and communication with puppy buyers or co-owners.