Neuronal Ceroid Lipofuscinosis 1 / NCL1 (PPT1-related) - Cane Corso

What does this test examine?

This genetic test analyses the PPT1 c.124+1G>A splice variant in the Cane Corso. The condition is known as neuronal ceroid lipofuscinosis 1, NCL1, CLN1, a Batten-like neurodegenerative disorder and PPT1-related lysosomal storage disease.

PPT1 encodes a lysosomal protein that is important for normal cellular breakdown processes. The tested variant disrupts this function and, with two copies, causes accumulation of autofluorescent storage material in nervous tissue.

What does this condition mean?

In this Cane Corso form, puppies can develop progressive blindness, ataxia, lethargy, abnormal postural responses, strabismus, head tilt and increasing neurological decline from roughly six to ten months of age.

NCL disorders are lysosomal storage diseases in which nerve cells are gradually damaged. As a result, problems with vision, behaviour, coordination, movement and neurological function can increase over time.

Inheritance and result

The trait is inherited as autosomal recessive. Two copies of the variant cause the condition. Carriers have one copy, usually appear healthy, and can pass the variant on.

What does the result mean?

• Clear (GG): the tested variant was not detected.
• Carrier (GA): the dog carries one copy and can pass the variant on.
• Affected (AA): two copies cause PPT1-related NCL1 in the Cane Corso.

Practical value of this test

• Shows whether the dog is clear, carrier or genetically affected for the tested PPT1 variant.
• Helps breeders avoid carrier-to-carrier matings and prevent puppies with a severe progressive neurological disorder.
• Provides valuable information before young, clinically normal or imported dogs are used for breeding.
• Supports line management when ataxia, behaviour change, vision loss, seizures or NCL occur in related animals.
• Makes communication with puppy buyers and fellow breeders more concrete because variant status is objectively known.

For breeders, this is especially useful because carriers can look healthy while two carriers together can produce affected puppies.