Neuronal ceroid lipofuscinosis 8 / NCL8 (CLN8-related) - Australian Shepherd and German Shorthaired Pointer

What does this test analyse?

This genetic test analyses the CLN8 c.585G>A variant for neuronal ceroid lipofuscinosis 8, also known as NCL8, neuronal ceroid lipofuscinosis type 8 and Batten disease, in Australian Shepherds, German Shorthaired Pointers and Miniature American Shepherds.

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?

This NCL8 variant can cause signs from around 10 to 20 months of age. Reduced vision and ataxia are often prominent, followed by compulsive circling, teeth chattering, reduced response to commands and restlessness with sounds.

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.

This test is especially valuable in breeds and lines where the same CLN8 variant can occur through related ancestry or shared origin.