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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 | 22 |
| Mutation | c.934_935del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | NCL5 |
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 variant, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.
Caractéristiques cliniques
Onset of NCL in the Golden Retriever occurs at about 15 months of age. Symptoms include ataxia (loss of coordination), anxiety, pacing/circling, tremors, aggression, visual impairment and seizures.
Additional Information
Références
Pubmed ID: 25934231
Year published: 2015
Omia ID: 1482
Omia variant ID: 541