Neuronal Ceroid Lipofuscinosis 8 (NCL8) – English Setter
Kodas: H652
Short description
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.
General information
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), is caused by a recessive mutation to the Ceroid‑Lipofuscinosis, Neuronal 8 (CLN8), and occurs in the English Setter. Other variants of NCL8 are found in the Australian Shepherd, German Shorthaired Pointer, Alpenländische Dachsbracke and Saluki.
Specifications
| Breeds | |
|---|---|
| Gene | CLN8 |
| Chromosome | 37 |
| Mutation | c.491T>C |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL8 |
Clinical features
Affected dogs develop symptoms of NCL between approximately 1 and 2 years of age. These symptoms include seizures, loss of vision, and decline of motor and cognitive ability. Most die from seizures by the age of 2 years.
References
Pubmed ID: 15629147
Year published: 2005
Omia ID: 1506
Omia variant ID:
Turnaround information
- 10 working days