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Tierarztl Prax Ausg K Kleintiere Heimtiere 2016; 44(06): 431-437
DOI: 10.15654/TPK-150766
Kasuistik
Schattauer GmbH

Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier

Article in several languages: deutsch | English
Anna Nolte
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
,
Aimara Bello
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
,
Michaela Drögemüller
2   Institut für Genetik, Vetsuisse-Fakultät der Universität Bern
,
Tosso Leeb
2   Institut für Genetik, Vetsuisse-Fakultät der Universität Bern
,
Eva Brockhaus
3   Tierarztpraxis, Eckernförde
,
Wolfgang Baumgärtner
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
,
Peter Wohlsein
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
› Author Affiliations
Further Information

Publication History

Received: 15 September 2015

Accepted after major revision: 07 June 2016

Publication Date:
20 December 2017 (online)

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Summary

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.

Keywords

Dog - cerebellar degeneration - lysosomal storage disease - genetic disorder
 

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