Test Detail
Cerebellar ataxia (CA) - Italian Spinone
Neurological · Dog
Hereditary neurodegenerative disease of the cerebellum described in the Italian Spinone. It produces progressive degeneration of the cerebellar cortex, with loss of Purkinje cells, which compromises movement coordination and balance. Affected dogs develop ataxia that impairs walking, standing and exercise. It is incurable and, although it does not cause pain, it ultimately severely limits quality of life.
Incidence
Applicable breed: Italian Spinone. Before the test became widespread, the disease was relatively common in European working lines; there is no consolidated epidemiology with published carrier frequencies (limited data).
Breeder management
- Test every breeding animal before mating
- Do not cross two carriers: 25 % of the litter would be affected
- A carrier may be crossed with a clear animal without risk of affected offspring; the offspring intended for breeding should be tested
- Do not automatically remove carriers: always mate them with clear animals to preserve genetic diversity
- Do not cross two carriers: 25 % of the litter would be affected
- A carrier may be crossed with a clear animal without risk of affected offspring; the offspring intended for breeding should be tested
- Do not automatically remove carriers: always mate them with clear animals to preserve genetic diversity
Specialist notes
The differential diagnosis includes other hereditary cerebellar ataxias and acquired processes (inflammatory, toxic, neoplastic). Clinical onset is usually in the first months or years of life, from 4 months of age. MRI shows cerebellar atrophy, especially of the vermis. There is no curative treatment; management is supportive and involves adapting the environment.
References
1. Forman OP et al. 2015, Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome 26(1-2):108-17. PMID: 25354648. OMIA:002097-9615.