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Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.
Kliniske egenskaper
Symptomer på NCL hos Golden Retrieveroppstår ved ca. 15 måneders alder. Symptomer inkluderer ataksi (tap av koordinasjon), angst sirkling, skjelvinger, aggresjon, synshemming og anfall.
Tilleggsinformasjon
Referanser
Pubmed ID: 25934231
Omia ID: 1482