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Neuronal Ceroid Lipofuscinoses (CL) is a serious neurological disorder causing a degeneration of the central nervous system.

10 working days

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 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

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