Neuronal Ceroid Lipofuscinosis 5, NCL 5

CLN5 Exon 4 SNP, Border Collie Variant

Multisystem

This condition affects how cells recycle waste. When waste accumulates, nerve cells are damaged, resulting in neurological signs that typically begin in younger dogs and worsen over time.

Signs and symptoms

Common symptoms reflect central nervous system malfunction and include partial or total vision loss, behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time.

Border collies with NCL are reported to develop neurologic signs as early as 15 months of age; however, this can vary between individual dogs, as can symptom severity.

Diagnosis

NCL is definitively diagnosed through genetic testing or examination of central nervous system (CNS) tissues after the affected dog is deceased. Clinical signs of this disease may mimic many other CNS diseases, so examination by a veterinarian or veterinary neurologist is required. Advanced imaging (CT or MRI scan) and/or spinal taps may be performed to rule out other diseases.

Treatment

What to do if your dog is at risk

Talk to your vet about your dog’s NCL result so you can work together to plan ongoing care and monitoring. Note any changes in their coordination, mobility, or behavior.

Keep your dog’s environment calm and consistent. Use slings, harnesses, or supportive devices as needed to help with mobility, and place rugs or mats on slippery floors to prevent falls.

Encourage gentle, food-based activities such as treat searches or puzzle toys to help your dog stay mentally engaged without overexertion.

Help your dog feel secure by keeping furniture in familiar places, using non-slip mats, and maintaining predictable daily routines.

Genetic information

A mutation in the CLN5 gene was first identified in Border Collies with NCL. CLN5 codes for a protein important for the function of other lysosomal enzymes.

Penetrance: This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.

Gene: CLN5 (Exon 4)
Inheritance type: recessive
Clinical category: Multisystem