Ataxia, Spinocerebellar, IPTR1-related
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Ataxia, Spinocerebellar, IPTR1-related
OMIA
2097
Gene Name
IPTR1
Mutation
Triplet (CTT) repeat expansion, IPTR1 intron 35
Test Type
Genetic Disease/Disorder
Details
Spinocerebellar ataxia, cerebellar ataxia (CA) is a progressive neurological disease. Clinical signs usually start around 4 months, and progess from "prancing" and lack of coordination to a severe loss of balance and falling. The welfare impact on the dogs is severe enough that most are euthanised by 1 year. The developer of the test, Canine Genetic Testing Cambridge rates this disease severity as "Moderate-Severe: The welfare of affected animals is significantly affected and life expectancy is usually reduced." The test is offered as a linkage test, where the variant has been identified but it is extremely difficult to directly assay for the variant. There is a very high degree of confidence in this linkage test. Ataxia seems to come in breed-related, or breed-specific types.
Details 2
"Neurological characteristics of SCAIS include a wide-based stance, spinocerebellar ataxia characterised by thoracic limb hypermetria (hyperextension), pelvic limb hyperflexion, truncal swaying, impaired balance, pendular nystagmus and absent menace response bilaterally. The remainder of the neurological examination was within normal limits. As the disease progressed intentional head tremor was observed and balance impairment deteriorated to the point that the dogs were unable to stand up and ambulate at approximately 1 year of age." (Forman et al. 2015) Initial age of onset from 4 months.
Assay/Test Information
Linkage
Published
Forman, O.P., De Risio, L., Matiasek, K., Platt, S., Mellersh, C. : Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome 26:108-17, 2015. Pubmed reference: 25354648. DOI: 10.1007/s00335-014-9547-6.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Italian Spinone