Neuronal Ceroid Lipofuscinosis 7, NCL 7

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.

Age of onset appears to be approximately one year of age.

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.

Currently, there is no treatment for NCL. While gene therapy trials in mouse models have proven promising, there is much more research required before it can be used in veterinary hospitals.

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.

A mutation in the MFSD8 gene has been identified in a Chinese Crested dog who presented with NCL at one year of age. This has since been identified in a Chihuahua as well. The MFSD8 protein is thought to control the trafficking of molecules into or out of lysosomes; loss of enzyme function leads to neurologic symptoms.

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

MFSD8

Inheritance type

recessive

Clinical category

Multisystem

Citations

1. Guo et al 2015
2. Faller et al 2016

• Chihuahua
• Chinese Crested