ITPR1-Related Spinocerebellar Ataxia in Dogs

Breeds documented
1
Published sources
2

Overview

An inherited coordination disorder can cause puppies to lose balance and develop an increasingly abnormal walk. This ITPR1-related form, described in the Spinone Italiano, affects the nervous system and usually becomes apparent after a normal start to life. Exaggerated leg movements and body swaying can worsen over the following months, and affected dogs may eventually be unable to stand or walk. It has been linked to an expanded stretch of DNA within the ITPR1 gene.

Signs to watch for

  • Standing with the feet unusually far apart
  • Exaggerated, high-stepping movements of the front legs
  • Swaying of the body and poor balance
  • Head tremors during movement
  • Increasing difficulty standing and walking

Puppies are initially normal; signs usually start at about four months.

When to get help Book a veterinary visit soon for a puppy with worsening balance or an unusual gait.

Diagnosis and tests

A neurologic examination helps identify the pattern of poor coordination. DNA testing for the Spinone Italiano cerebellar ataxia variant can determine whether a dog has no copies, one copy or two copies of the associated variant. Results from an MRI imaging scan alone do not establish this diagnosis, because similar mild changes were also found in an unaffected dog in the original study.

Breeds with documented risk

1 breed

By breed size
  • 1 Large

Inheritance

  • Not yet known

    None of the sources we use states how this is inherited in dogs yet.

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.

Sources

  1. vgl.ucdavis.edu
  2. ebi.ac.uk