title: Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier.
abstract: 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.
authors: Anna
authors: A
authors: Nolte
authors: Aimara
authors: A
authors: Bello
authors: Michaela
authors: M
authors: Drögemüller
authors: Tosso
authors: T
authors: Leeb
authors: Eva
authors: E
authors: Brockhaus
authors: Wolfgang
authors: W
authors: Baumgärtner
authors: Dr. Peter Wohlsein, Institut für Pathologie, Tierärztliche Hochschule Hannover, Bünteweg 17, 30559 Hannover, E-Mail: peter.wohlsein@tiho-hannover.de.
authors: Peter
authors: P
authors: Wohlsein
mesh_terms: D000818:Animals; D002531:Cerebellum / Q000473:pathology; D004283:Dog Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004285:Dogs; D005260:Female; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000662:veterinary*
keywords: Dog; cerebellar degeneration; genetic disorder; lysosomal storage disease