The canine neuronal ceroid-lipofuscinosis: a review.

Karli, Philemon; Karol, Agnieszka; Oevermann, Anna; Drögemüller, Cord; Gorgas, Daniela; Henke, Diana (2014). The canine neuronal ceroid-lipofuscinosis: a review. Schweizer Archiv für Tierheilkunde, 156(9), pp. 417-423. Huber 10.1024/0036-7281/a000623

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The present article gives a survey over the current scientific knowledge of the canine neuronal ceroid-lipofuscinosis (NCL). NCL is a heterogenous group of lysosomal storage diseases in humans and animals. In consequence of a gene mutation, there is an accumulation of ceroid-lipofuscin in neurons, cells of the retina and the skin and other cells. The stored ceroid-lipofuscin in neurons leads to an impaired cell function and subsequently to cell death. Recently, the underlying genetic defect was discovered in several dog breeds. Genetic testing permits an ante mortem diagnosis of the disease, which up to now was only possible with a positive biopsy result. Another advantage is the identification of carrier animals to eliminate the deleterious alleles.

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