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Neuronal Ceroid Lipofuscinosis (NCL) is 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 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 1 (NCL1 or CLN1), is caused by a recessive mutation to the gene PPT1, and is found in the Dachshund. Another variant of CLN1 has also been found in the Cane Corso.
Caratteristiche cliniche
Affected dogs experience progressing neurological symptoms within the first year of life. These symptoms can include nervousness, increased sensitivity to noises, loss of coordination, circling behavior and loss of vision progressing to full blindness. Euthanasia on humane grounds is often desirable due to poor quality of life.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 20494602
Omia ID: 1504
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