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.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > DKV - Clinical Radiology
05 Veterinary Medicine > Research Foci > NeuroCenter
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > DKV - Clinical Neurology
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Experimental Clinical Research
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Karli, Philemon; Karol, Agnieszka; Oevermann, Anna; Drögemüller, Cord; Schweizer, Daniela Esther and Henke, Diana

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture

ISSN:

0036-7281

Publisher:

Huber

Language:

German

Submitter:

Daniela Esther Schweizer

Date Deposited:

17 Dec 2014 17:27

Last Modified:

01 Nov 2017 10:55

Publisher DOI:

10.1024/0036-7281/a000623

PubMed ID:

25183673

Uncontrolled Keywords:

Gentest, NCL, Speicherkrankheit, degenerative Enzephalopathie, degenerative encephalopathy, genetic testing, storage, disease

BORIS DOI:

10.7892/boris.60940

URI:

https://boris.unibe.ch/id/eprint/60940

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