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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 | 9 |
| Mutation | c.296G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | NCL4A |
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 specific variant of the disease analysed in this test is variously referred to as Neuronal Ceroid Lipofuscinosis 4A (NCL 4A), Cerebellar Cortical Abiotrophy, Cerebellar Cortical Degeneration, Cerebellar Ataxia or Mucopolysaccharidosis (MPS). It occurs in the American Staffordshire Terrier, and is caused by a recessive mutation to the gene ARSG.
Caractéristiques cliniques
Les chiens affectés ont des changements de comportement tardifs et lentement progressifs, une dégénérescence cognitive et motrice, une ataxie, des convulsions et une mort prématurée.
Additional Information
Références
Pubmed ID: 20679209
Year published: 2010
Omia ID: 1503
Omia variant ID: 67