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Neuronal Ceroid Lipofuscinoses (CL) is a serious neurological disorder causing a degeneration of the central nervous system.
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Specifications
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
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Chromosome | |
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General information
Neuronal Ceroid Lipofuscinoses (CL) is a serious neurological disorder causing a degeneration of the central nervous system. The disease is caused by improper storage of lipofuscin in the cells of the retina and the brain.
Clinical features
Neuronal Ceroid Lipofuscinoses (CL) can appear as early as 6 month but also at a much later age. Symptoms can include partial to total vision loss, tremors and difficulties to walk. The disease progresses slowly.
Additional information
References
Pubmed ID: 16621647
Omia ID: 1472