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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 21362476; 22022275
Omia ID: 1552