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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.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 25551667
Omia ID: 1962
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