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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
| Razza | |
|---|---|
| Organo | |
| Gene | |
| Campione | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Tipo di Ereditarietà | Autosomal Recessive |
| Cromosoma | 30 |
| Tipo di Ereditarietà | NCL6 |
| Anno di pubblicazione |
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 of the disease, known as Neuronal Ceroid Lipofuscinosis 6 (NCL6), is found in the Australian Shepherd, and is caused by a recessive mutation to the gene CLN6.
Caratteristiche cliniche
Symptoms of NCL6 include decreased vision progressing to complete blindness. Progressive neurological symptoms which have been observed are anxiety, circling behavior and loss of coordination.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 21234413
Omia ID: 1443