title: [The canine neuronal ceroid-lipofuscinosis: a review].
abstract: 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.
authors.affiliation: Departement für klinische Veterinärmedizin, Abteilung für neurologische Wissenschaften, Vetsuisse-Fakultät, Universität Bern.
authors.forename: P
authors.initials: P
authors.lastname: Karli
authors.affiliation: Institut für Veterinärpathologie, Vetsuisse-Fakultät, Universität Zürich.
authors.forename: A
authors.initials: A
authors.lastname: Karol
authors.affiliation: DCR-VPH, Abteilung für neurologische Wissenschaften.
authors.forename: A
authors.initials: A
authors.lastname: Oevermann
authors.affiliation: Institut für Genetik, Vetsuisse-Fakultät, Universität Bern.
authors.forename: C
authors.initials: C
authors.lastname: Drögemüller
authors.affiliation: Departement für klinische Veterinärmedizin, Abteilung für Radiologie, Vetsuisse-Fakultät, Universität Bern.
authors.forename: D
authors.initials: D
authors.lastname: Gorgas
authors.affiliation: Departement für klinische Veterinärmedizin, Abteilung für neurologische Wissenschaften, Vetsuisse-Fakultät, Universität Bern.
authors.forename: D
authors.initials: D
authors.lastname: Henke
mesh_terms: D000818:Animals; D004283:Dog Diseases; D004285:Dogs; D005820:Genetic Testing; D009472:Neuronal Ceroid-Lipofuscinoses; D014730:Veterinary Medicine
keywords: Gentest; NCL; Speicherkrankheit; degenerative Enzephalopathie; degenerative encephalopathy; genetic testing; storage disease