Neuronal ceroid lipofuscinosis 8 / NCL8 (CLN8 deletion) - Alpine Dachsbracke

What does this test analyse?

This genetic test analyses the CLN8 c.-14679_*18669del variant for neuronal ceroid lipofuscinosis 8, also known as NCL8, neuronal ceroid lipofuscinosis type 8 and Batten disease, in Alpine Dachsbrackes.

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 form involves a large deletion encompassing the CLN8 gene. Affected dogs usually develop young, progressive neurological signs with ataxia, disorientation, vision loss, seizures, motor decline and behavioural changes.

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.

Because this deletion affects an entire gene region, clear carrier detection is important for every planned breeding combination within the breed.