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Neuroaxonal dystrophy (NAD) in dogs is an inherited condition that affects the nervous system.
10 Arbeidsdager
Spesifikasjoner
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specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
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Chromosome | |
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Generell informasjon
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).
Kliniske egenskaper
Kliniske egenskaper inkluderer nystagmus, intensjonsskjelv, hypermetria, ataksi, posturale underskudd.
Tilleggsinformasjon
Denne testen er basert på en genom-wide assosiasjonsstudie.
Referanser
Pubmed ID: 29945969
Omia ID: 2152