Spinocerebellar ataxia is a progressive neurodegenerative autosomal recessive hereditary disorder characterized by uncoordinated walking, problems with movement or, in some cases, complete loss of ability to move, seizures and myokymia. The affected dogs usually have to be euthanised under the age of 4 years due to worsening of clinical signs.
The symptoms are very similar to signs shown by dogs affected with Late Onset Ataxia (LOA), so there may be a confusion in identification of this hereditary disease.
There are two known mutations in KCNJ10 gene associated with spinocerebellar ataxia. In our laboratory we offer tests for both known mutations (information about other mutation can be found here: https://www.eurovetgene.com/spinocerebelarna-ataksija-sca). However, there are still some cases of SCA that cannot be explained by either of them.
Inheritance: autosomal recessive - read more
Mutation: KCNJ10 gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.