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Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 5 |
| Mutation | c.2504A>G |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | NAD |
Información específica de la prueba
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).
Características clínicas
Las características clínicas incluyen nistagmo, temblor de la intención, hypermetria, ataxia, déficits posturales.
Información adicional
Esta prueba se basa en un estudio de asociación de todo el genoma.
Referencias
Pubmed ID: 29945969
Year published: 2018
Omia ID: 2152
Omia variant ID: 995