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Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and ultimately death.
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Caractéristiques
Breeds | |
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Gene | |
Organ | |
specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Mode of Inheritance | |
Chromosome | |
Year Published |
Informations générales
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and ultimately death. This variant of the disease, found in the Norwegian Buhund, is caused by a recessive mutation to the gene KCNIP4.
Caractéristiques cliniques
Affected puppies begin displaying symptoms within the first 12 weeks of life. The main signs of the disorder are a broad stance, fine tremors of the head, ataxia (loss of coordination) of the body, absent menace response, and hypermetria (overextension of the limbs while stepping). The disease is slowly progressive, and euthanasia might be necessary on humane grounds.
Additional Information
Références
Pubmed ID: 31999692
Omia ID: 2240