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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.349dupT |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | NCL8 |
Informations générales
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 particular variant of the disorder, known as Neuronal Ceroid Lipofuscinosis 8 (NCL8), is caused by a recessive mutation to the gene CLN8. The specific mutation analysed in this test is found in the Saluki. Closely related variants also occur in the English Setter, Australian Shepherd, German Shorthaired Pointer and Alpenländische Dachsbracke.
Caractéristiques cliniques
Affected dogs begin presenting with behavioural changes (anxiety and restlessness) within the first year of life. The disease gradually progresses to impaired vision, hearing, tremors, seizures, difficulty walking and loss of housetraining. Due to poor quality of life, euthanasia is likely necessary.
Additional Information
Références
Pubmed ID: 29446145
Year published: 2018
Omia ID: 1506
Omia variant ID: 971