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Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.1617_1619delGGA |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | FNAD |
Informations générales
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 lethal variant of the disease, also known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.
Caractéristiques cliniques
Affected puppies are born with immobilized limb joints and with scoliosis of the spine. They are unable to breathe independently, and are either stillborn or die shortly after birth.
Additional Information
Références
Pubmed ID: 20653033
Year published: 2010
Omia ID: 2153
Omia variant ID: 472