Cerebellar Ataxia, Progressive Early-Onset Cerebellar Ataxia

Signs of cerebellar disease include: dogs have an uncoordinated gait (ataxia) with stilted "toy soldier" leg movements. They can display "intention tremors," where a stretched out limb or head shakes more and more violently as it approaches its target. At rest, dogs sometimes display a "truncal sway;" their spinal muscles have lost their fine-tuning, pulling the spine (and everything attached to it) back and forth in a struggle to maintain balance. The muscles of the eyes have also lost this fine-tuning, leading to a rhythmic eye flicking (nystagmus).

Cerebellar symptoms arise when puppies are about 3 months old and rapidly worsen.

Unless a genetic basis is suspected due to the age, breed, or history of the dog, diagnostics must be performed to rule out infectious, inflammatory, or neoplastic causes.

Owners often opt for euthanasia due to poor quality of life.

Talk to your vet about your dog’s progressive early-onset cerebellar ataxia result so you can plan ongoing care and monitoring.

Watch for early signs such as unsteady movement, head tremors, or changes in coordination, and contact your vet if you notice any of these.

Keep your dog’s environment calm and consistent. Use rugs or mats to prevent slipping and help them move safely around the home.

Dogs with severe or progressive symptoms may have a shortened lifespan, but supportive care can help keep them comfortable.

A single mutation in the SEL1L gene has been identified in Finnish Hounds with early onset progressive cerebellar ataxia. SEL1L plays a role in protein quality control: like most cellular processes, mistakes can be made in protein production. clearly, misassembled or folded proteins are recognized and degraded in a cellular structure known as the endoplasmic reticulum. In the absence of SEL1L, abnormal proteins build up, interfering with normal cellular pathways and causing cellular dysfunction and death. The cerebellum is profoundly affected by this defect and is the first organ to show signs of malfunction.

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

SEL1L

Inheritance type

recessive

Clinical category

Neurologic

Citations

1. Kyostila et al 2012

• Finnish Hound
• Norrbottenspets