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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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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.491T>C |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | NCL8 |
Información específica de la prueba
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 Ceroid‑Lipofuscinosis, Neuronal 8 (CLN8), and occurs in the English Setter. Other variants of NCL8 are found in the Australian Shepherd, German Shorthaired Pointer, Alpenländische Dachsbracke and Saluki.
Características clínicas
Los perros afectados desarrollan síntomas de NCL entre aproximadamente 1 y 2 años de edad. Estos síntomas incluyen convulsiones, pérdida de la visión y disminución de la capacidad motora y cognitiva. La mayoría muere de convulsiones a la edad de 2 años.
Información adicional
Referencias
Pubmed ID: 15629147
Year published: 2005
Omia ID: 1506
Omia variant ID: 69