Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier.

Nolte, Anna; Bello, Aimara; Drögemüller, Michaela; Leeb, Tosso; Brockhaus, Eva; Baumgärtner, Wolfgang; Wohlsein, Peter (2016). Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. Tierärztliche Praxis. Ausgabe K - Kleintiere, Heimtiere, 44(6), pp. 431-436. Schattauer 10.15654/TPK-150766

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A female, 5-year-old American Staffordshire Terrier with severe progressive neurological deficits, particularly in terms of ataxia and keeping balance, was examined pathomorphologically and a genetic analysis was performed. In neurons of various localizations of the central nervous system an accumulation of a finely granular pale eosinophilic or light brown material was found. In addition, the cerebellum revealed marked degeneration and loss of Purkinje and inner granule cells. The accumulated PAS-positive, argyrophilic, autofluorescent material showed ultrastructurally a lamellar appearance suggestive of lipofuscin. Genetic analysis revealed the presence of a sequence variant in the ARSG gene encoding the lysosomal enzyme arylsulfatase G. This case report describes an adult-onset of a neuronal ceroid lipofuscinosis that shows similarities with a human disorder termed Kufs disease.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > NeuroCenter
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:

Drögemüller, Michaela and Leeb, Tosso

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

1434-1239

Publisher:

Schattauer

Language:

German

Submitter:

Tosso Leeb

Date Deposited:

13 Dec 2016 13:31

Last Modified:

13 Dec 2016 15:16

Publisher DOI:

10.15654/TPK-150766

PubMed ID:

27778018

Uncontrolled Keywords:

Dog; cerebellar degeneration; genetic disorder; lysosomal storage disease

BORIS DOI:

10.7892/boris.90348

URI:

https://boris.unibe.ch/id/eprint/90348

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