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H683

Cerebellar ataxia is a category of often severe neural disorders that cause a loss of physial coordination.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Cerebellar ataxia is a category of often severe neural disorders that cause a loss of physial coordination. This variant of the disease, known simply as Spinocerebellar Ataxia, is found in the Alpine Dachsbracke. It is caused by a recessive mutation to the gene SCN8A.

Clinical features

Signs of cerebellar dysfunction become apparent in affected puppies at approximately three weeks of age. Symptoms include ataxia (loss of physical coordination), loss of balance, tremors, falling and impaired vision. The disease is severe, and euthanasia is usually necessary by the age of 12 weeks.

Additional information

References

Pubmed ID: 31083464

Omia ID: 2194

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