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Neuronal Ceroid Lipofuscinosis 8 (NCL8) is a hereditary neurodegenerative lysosomal storage disorder caused by mutations in the Ceroid‑Lipofuscinosis Neuronal 8 (CLN8) gene.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.-14679_*18669del |
| 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 8 (NCL8) is a hereditary neurodegenerative lysosomal storage disorder caused by mutations in the Ceroid‑Lipofuscinosis Neuronal 8 (CLN8) gene. This defect leads to the build‑up of lipopigments, which are abnormal fatty waste substances that the body cannot break down properly. As these waste materials accumulate inside nerve cells, normal cell function becomes disrupted. Over time, neurons in the brain and retina degenerate, resulting in progressive neurological problems and loss of vision. In the Alpine Dachsbracke, the condition is inherited in an autosomal recessive manner.
Características clínicas
Affected dogs typically develop juvenile‑onset, progressive neurological signs, often beginning between birth and two years of age. Early symptoms may include uncoordinated movements (ataxia), behavioural changes, disorientation, and declining vision. As the disease advances, dogs may display epileptic seizures, increasing motor dysfunction, anxiety or aggression, difficulty eating, and rapid neurological deterioration. These clinical signs progressively worsen over time and significantly impact quality of life due to the combined effects of vision loss, motor impairment, and severe neurological decline. For many dogs, the progression becomes severe enough that euthanasia is eventually considered the most humane option.
Información adicional
Referencias
Pubmed ID: 28024876
Year published: 2017
Omia ID: 1506
Omia variant ID: 690