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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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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 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 2 (NCL2), is caused by a recessive mutation to the gene TPP1. It is found in the Dachshund.
Caratteristiche cliniche
Le lipofuscinosi neuronali ceroidi (CL) possono apparire già a 6 mesi ma anche in età molto più avanzata. I sintomi possono includere perdita della vista parziale o totale, tremori e difficoltà a camminare. La malattia progredisce lentamente.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 16621647
Omia ID: 1472