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H413

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

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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 as Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration (NCCD) or simply Spinocerebellar Ataxia, is found in the Beagle. It is caused by a recessive mutation to the gene SPTBN2. Other variants of the disease have been reported in the Rhodesian Ridgeback, Samoyed, Irish Setter and Coton De Tulear.

Clinical features

Affected puppies are unable to walk normally, having a tendency to lean and fall to either side. Other symptoms can include abnormal eye movement and an absent menace response. Depending on the severity of symptoms, euthanasia on humane grounds may be desirable.

Additional information

Infectious or neoplastic causes can cause similar symptoms.

References

Pubmed ID: 22781464

Omia ID: 2092

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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