Nolte, AnnaAnnaNolteBello, AimaraAimaraBelloDrögemüller, MichaelaMichaelaDrögemüllerLeeb, TossoTossoLeeb0000-0003-0553-4880Brockhaus, EvaEvaBrockhausBaumgärtner, WolfgangWolfgangBaumgärtnerWohlsein, PeterPeterWohlsein2025-01-082025-01-082016-10-25https://boris-portal.unibe.ch/handle/20.500.12422/198674A 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.deDogcerebellar degenerationgenetic disorderlysosomal storage disease500 - Science::570 - Life sciences; biology500 - Science::590 - Animals (Zoology)600 - Technology::610 - Medicine & healtharticle10.7892/boris.903482777801810.15654/TPK-150766