Hereditary Ataxia (RAB24-related) – Old English Sheepdog and Gordon Setter
Kodas: H653
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. The variant of the disorder analysed in this test is found in the Gordon Setter and Old English Sheepdog. It is caused by a recessive mutation to the gene RAB24.
Specifications
| Breeds | |
|---|---|
| Gene | RAB24 |
| Chromosome | 4 |
| Mutation | c.113A>C |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
The clinical phenotype is identical in both breeds with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI).
References
Pubmed ID: 24516392
Year published: 2014
Omia ID: 1913
Omia variant ID:
Turnaround information
- 10 working days