Neonatal Cortical Cerebellar Abiotrophy (NCCD) – Beagle
Code: H413
Short description
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination.
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.
Specifications
| Breeds | |
|---|---|
| Gene | SPTBN2 |
| Chromosome | 18 |
| Mutation | c.5855_5862del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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
Year published: 2012
Omia ID: 2092
Omia variant ID:
Turnaround information
- 15 working days