Neuronal Ceroid Lipofuscinosis 8 (NCL8) – Saluki
Kodas: H958
Short description
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.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | CLN8 |
| Chromosome | 37 |
| Mutation | c.349dupT |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL8 |
Clinical features
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.
References
Pubmed ID: 29446145
Year published: 2018
Omia ID: 1506
Omia variant ID:
Turnaround information
- 10 working days