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Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination.
10 Arbeidsdager
Spesifikasjoner
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| Gene | |
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| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
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| Chromosome | |
| Also known as | |
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Generell informasjon
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.
Kliniske egenskaper
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.
Tilleggsinformasjon
Referanser
Pubmed ID: 31083464
Omia ID: 2194