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Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
10 working days
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Caractéristiques
| Breeds | Berger américain miniature, Berger australien, Braque allemand à poil court |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.585G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillon, EDTA sanguin, Héparine sanguine, Sperme, Tissu |
| Also known as | NCL8 |
Informations générales
Neuronal Ceroid Lipofuscinosis (NCL) is 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, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), occurs in the Australian Shepherd and German Shorthaired Pointer. It is caused by a recessive mutation to the gene CLN8. Other breeds that carry mutations for NCL8 include the English Setter, Alpenländische Dachsbracke, and Saluki.
Caractéristiques cliniques
Affected dogs begin to present symptoms between 10 and 20 months of age, primarily impaired vision and ataxia (loss of coordination). This can result in compulsive circling movements, jaw chattering, loss of housetraining, decreased responsiveness to voice commands and agitation at noises. The disease is progressive, and euthanasia may ultimately be necessary due to poor quality of life.
Additional Information
Références
Pubmed ID: 24953404
Year published: 2014
Omia ID: 1506
Omia variant ID: 338