Neuroaxonal Dystrophy (NAD) – Rottweiler
Code: H888
Short description
Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system.
General information
Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system. In the condition, there is swelling of cells in the brain which affect the communication with nerve cells. NAD can be present at birth or develop later in a dog’s life, leading to neurological dysfunction and loss of coordination.
There are multiple variants of mutations known in different breeds. This variant of the disorder occurs in the Rottweiler and is caused by a missense mutation within the Vacuolar Protein Sorting 11 (VPS11).
Specifications
| Breeds | |
|---|---|
| Gene | VPS11 |
| Chromosome | 5 |
| Mutation | c.2504A>G |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NAD |
Clinical features
Clinical features includes nystagmus, intention tremor, hypermetria, ataxia, postural deficits.
Additional information
This test is based on a genome-wide association study.
References
Pubmed ID: 29945969
Year published: 2018
Omia ID: 2152
Omia variant ID:
Turnaround information
- 15 working days