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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.491T>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | NCL8 |
Informations générales
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. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), is caused by a recessive mutation to the gene CLN8, and occurs in the English Setter. Other variants of NCL8 are found in the Australian Shepherd, German Shorthaired Pointer, Alpenländische Dachsbracke and Saluki.
Caractéristiques cliniques
Affected dogs develop symptoms of NCL between approximately 1 and 2 years of age. These symptoms include seizures, loss of vision, and decline of motor and cognitive ability. Most die from seizures by the age of 2 years.
Additional Information
Références
Pubmed ID: 15629147
Year published: 2005
Omia ID: 1506
Omia variant ID: 69