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Neuroaxonal dystrophy (NAD) in dogs is an inherited condition that affects the nervous system.
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Specifiche
| Breeds | |
|---|---|
| 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 variant of the disorder occurs in the Rottweiler and is caused by a missense mutation within the Vacuolar Protein Sorting 11 (VPS11).
Caratteristiche cliniche
Le caratteristiche cliniche includono nystagmus, tremore delle intenzioni, ipermetria, asassia, deficit posturali.
Informazioni aggiuntive
Questo test si basa su uno studio di associazione sull'intero genoma.
Riferimenti
Pubmed ID: 29945969
Omia ID: 2152