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Neuroaxonal dystrophy (NAD) in dogs is an inherited condition that affects the nervous system.
Working days 10
Specifiche
Breeds | |
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Gene | |
Organ | |
specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informazioni generali
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.
Caratteristiche cliniche
L'insorgenza dei sintomi è in genere tra i 6 e i 18 mesi di età e segue un decorso progressivo di regressione cognitiva e motoria, nonché ipotonia.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 26555167
Omia ID: 1975