Neuronal Ceroid Lipofuscinosis 8 in Dogs

Category: Nervous System & Behavioral
Inheritance: Autosomal recessive
Breeds documented: 4
Published sources: 5

Overview

Several changes in the CLN8 gene can cause type 8 neuronal ceroid lipofuscinosis, known as NCL8. This inherited disease causes abnormal storage material to collect in nerve cells and leads to progressive nervous-system damage. Affected dogs may lose vision, become unsteady, or stop responding normally to familiar commands. Repetitive circling, anxiety, and seizures can also develop as the illness progresses.

Signs to watch for

Declining vision and bumping into familiar objects
Increasing clumsiness or difficulty using stairs
Repeated pacing or circling
Reduced response to previously learned commands
Anxiety or unusual sensitivity to noise
Seizures as the disease advances

Signs often begin in young dogs, but their timing varies among forms.

When to get help Book a veterinary visit soon for declining vision, coordination, or responsiveness.

Diagnosis and tests

DNA testing looks for a CLN8 variant associated with the dog's ancestry. Different changes have been reported in English Setters, Alpine Dachsbrackes, Salukis, and dogs with Australian Shepherd ancestry. A vet uses the history and neurological examination to guide interpretation. Brain imaging and microscopic tissue examination can provide further evidence when investigating suspected disease.

Breeds with documented risk

4 breeds

By breed size

3 Medium
1 Large

Australian ShepherdMedium · Herding Group
English SetterMedium · Sporting Group
SalukiLarge · Hound Group
Alpine DachsbrackeMedium · FCI Group 6 (Scenthounds)

Inheritance

Autosomal recessive
A dog is affected only if it inherits two copies of the gene variant, one from each parent. A dog with one copy is a carrier: usually healthy, but able to pass the variant on. When two carriers are bred, on average one puppy in four is affected. A DNA test can tell clear, carrier and at-risk dogs apart.
As stated by OMIA

We've gathered what published sources say about this condition, so you can talk it through with your vet. It isn't veterinary advice: you and your vet know your dog best.