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Neuroaxonal dystrophy (NAD) in dogs is an inherited condition that affects the nervous system.
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Caractéristiques
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informations générales
Neuroaxonal dystrophy (NAD) in dogs is an inherited 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 specific variant of the disorder, found in the Spanish Water Dog, is caused by a recessive mutation to the gene TECPR2.
Caractéristiques cliniques
L'apparition des signes cliniques se situe habituellement entre 6 et 18 mois d’âge et se développent progressivement avec des régressions motrices et cognitives et une hypotonie.
Additional Information
Références
Pubmed ID: 26555167
Omia ID: 1975