Neuronal Ceroid Lipofuscinosis 12 (NCL12) – Tibetan Terrier
Code: H458
Short description
Neuronal Ceroid Lipofuscinosis (NCL) is the name for 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 for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 12 (NCL12), is caused by a recessive mutation to the gene ATP13A2. It is found in the Tibetan Terrier. A related variant is also found in the Australian Cattle Dog.
Specifications
| Breeds | |
|---|---|
| Gene | ATP13A2 |
| Chromosome | 2 |
| Mutation | c.1623del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL12 |
Clinical features
NCL usually starts with blindness in dusk and disorientation. Affected dogs can appear nervous or anxious. They often lack motor coordination, which worsens overtime. Later on the affected dogs can experience problems with going up the stairs, getting up and jumping. At the final stages mild to severe epileptic seizures can be observed.
References
Pubmed ID: 21362476; 22022275
Year published: 2011
Omia ID: 1552
Omia variant ID:
Turnaround information
- 15 working days