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Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease. NCL in Tibetian Terriers can be caused by a mutation in the ATP13A2 gene.
Clinical features
NCL usually starts with blindness in dusk and disorientation. Affected dogs can appear nervous or anxious. They often lack motor coordination, which worsens overtime. Later on the affected dogs can experience problems with going up the stairs, getting up and jumping. At the final stages mild to severe seizures can be observed.
Additional information
References
Pubmed ID: 21362476,22022275
Omia ID: 1552
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