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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 | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
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
Omia ID: 1503