Hereditary Ataxia (KCNIP4-related) – Norwegian Buhund
Kodas: H905
Short description
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and ultimately death.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | KCNIP4 |
| Chromosome | 3 |
| Mutation | c.436T>C |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
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.
References
Pubmed ID: 31999692
Year published: 2020
Omia ID: 2240
Omia variant ID:
Turnaround information
- 10 working days