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Neuronal ceroid lipofuscinosis is a neurodegenerative disease characterised by accumulation of lipofuscin in the (brain) cells of the body.
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Specifications
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
General information
Neuronal ceroid lipofuscinosis is a neurodegenerative disease characterised by accumulation of lipofuscin in the (brain) cells of the body.
This test detects a DNA variant that is highly associated with the disease.
Clinical features
Early visual loss leading to complete retinal blindness can be observed in puppies. In later stages of life a vegetative state can be reached followed by absence of brain activity.
Additional information
References
Pubmed ID: 16033706
Omia ID: 1482