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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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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. The variant of the disease analysed in this test, known as Neuronal Ceroid Lipofuscinosis 1 (NCL1), is caused by a recessive mutation to the gene PPT1, and is found in the Cane Corso. A closely related variant of NCL1 is found in the Dachshund.
Caratteristiche cliniche
Affected puppies begin presenting with symptoms of NCL at approximately half a year of age. Symptoms include gradual loss of vision and ataxia (loss of coordination), as well as neurological signs such as strabismus (wandering eye), absent menace response and a tilted head. The disease is severe and progressive, and euthanasia is likely to be necessary due to poor quality of life.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 28008682
Omia ID: 1504