Neuronal ceroid lipofuscinosis 8 / NCL8 (CLN8-related) - English Setter

What does this test analyse?

This genetic test analyses the CLN8 c.491T>C variant for neuronal ceroid lipofuscinosis 8, also known as NCL8, neuronal ceroid lipofuscinosis type 8 and Batten disease, in English Setters.

NCL8 belongs to the neuronal ceroid lipofuscinoses: inherited lysosomal storage diseases in which waste products such as ceroid and lipofuscin accumulate in nerve cells and often in the retina. This leads to progressive neurological signs, loss of vision and declining mobility.

What does this condition mean?

In English Setters, affected dogs usually develop progressive signs between about 1 and 2 years of age. Epileptic seizures, loss of vision and decline in motor and cognitive skills are important signs.

Common signs include behavioural change, anxiety or restlessness, reduced response to commands, compulsive circling, ataxia, tremor, epileptic seizures, declining vision or hearing and loss of house training. The course is progressive and can already have a major impact on welfare and quality of life at a young age.

Inheritance and result

The trait is inherited as an autosomal recessive condition. Clear dogs have two normal copies. Carriers have one copy of the tested variant and can pass it on. Dogs with two copies have the genotype that causes this form of NCL8.

Practical value of this test

• The test helps breeders identify carriers before two carriers are combined.
• The result prevents severe neurological disease from continuing unnoticed in a line.
• For owners, the result provides clear inherited information in breeds where NCL8 occurs.
• In young dogs with behavioural change, vision loss or coordination problems, the result can help clarify genetic risk.
• Variant status can be documented reliably for pedigree records, breeding advice and future combinations.
• Targeted testing makes it possible to manage healthy carriers responsibly without unnecessarily losing valuable lines.

For English Setter lines, this test helps actively keep a known severe NCL8 variant out of risk matings.