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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 | 19 |
| Mutation | c.843delT |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | NCL7 |
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, known as Neuronal Ceroid Lipofuscinosis 7 (NCL 7) is caused by a recessive mutation to the gene MFSD8, and occurs in the Chinese Crested Dog and Chihuahua.
Caractéristiques cliniques
Affected dogs show neurological symptoms that can include compulsive licking, disorientation, blindness, anxiety, excessive sleep and hyper-responsiveness to stimuli. These symptoms tend to present within the first year of life. The disease is progressive, and euthanasia due to poor quality of life is likely necessary.
Additional Information
Références
Pubmed ID: 25551667
Year published: 2015
Omia ID: 1962
Omia variant ID: 551