Description: Spongy degeneration with cerebellar ataxia is a genetically heterogeneous neurodegenerative disorder characterized by progressive degeneration of the cerebellum and extracerebellar structures. As a result of impaired potassium channel function, potassium accumulates in the extracellular space. The first symptoms appear in puppies aged 4-5 weeks and are mainly associated with cerebral dysfunction. Affected puppies exhibit general ataxic gait, tremor, loss of balance and seizures. Affected puppies may die during the seizure. Clinical symptoms show very rapid progression and puppies are usually euthanized.
Inheritance: autosomal recessive
Mutation: c.130_131ins227 in ATP1B2 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Belgian Shepherd, Dutch shepherd dog
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