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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 22 |
| Mutation | c.619C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | NCL5 |
Informations générales
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 5 (NCL5 or CLN5), is caused by a recessive mutation to the gene CLN5. This variant is found in the Australian Cattle Dog and the Border Collie. A related variant is found in the Golden Retriever.
Caractéristiques cliniques
Une perte visuelle précoce conduisant à une cécité rétinienne complète peut être observée chez les chiots. Dans les stades ultérieurs de la vie un état végétatif peut être atteint suivi de l’absence de l’activité cérébrale.
Additional Information
Références
Pubmed ID: 16033706
Year published: 2005
Omia ID: 1482
Omia variant ID: 279