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Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 27 |
| Mutation | c.4898G>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | SCA |
Informations générales
Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination. This variant of the disease, known simply as Spinocerebellar Ataxia 2 (SCA2), is found in the Alpine Dachsbracke. It is caused by a recessive mutation to the gene SCN8A.
Caractéristiques cliniques
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 on humane grounds is typically necessary by the age of 12 weeks.
Additional Information
Références
Pubmed ID: 31083464
Year published: 2019
Omia ID: 2194
Omia variant ID: 1077