title: Characterization of neuronal ceroid-lipofuscinosis in 3 cats.
abstract: Three young domestic shorthair cats were presented for necropsy with similar histories of slowly progressive visual dysfunction and neurologic deficits. Macroscopic examination of each cat revealed cerebral and cerebellar atrophy, dilated lateral ventricles, and slight brown discoloration of the gray matter. Histologically, there was bilateral loss of neurons within the limbic, motor, somatosensory, visual, and, to a lesser extent, vestibular systems with extensive astrogliosis in the affected regions of all 3 cases. Many remaining neurons and glial cells throughout the entire central nervous system were distended by pale yellow to eosinophilic, autofluorescent cytoplasmic inclusions with ultrastructural appearances typical of neuronal ceroid-lipofuscinoses (NCLs). Differences in clinical presentation and neurological lesions suggest that the 3 cats may have had different variants of NCL. Molecular genetic characterization in the 1 cat from which DNA was available did not reveal any plausible disease-causing mutations of the CLN1 (PPT1), CLN3, CLN5, CLN8, and CLN10 (CTSD) genes. Further investigations will be required to identify the mutations responsible for NCLs in cats.
authors.affiliation: Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN, USA chalkley@umn.edu.
authors.forename: M D
authors.initials: MD
authors.lastname: Chalkley
authors.affiliation: Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN, USA.
authors.forename: A G
authors.initials: AG
authors.lastname: Armien
authors.affiliation: Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA.
authors.forename: D H
authors.initials: DH
authors.lastname: Gilliam
authors.affiliation: Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA.
authors.forename: G S
authors.initials: GS
authors.lastname: Johnson
authors.affiliation: Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA.
authors.forename: R
authors.initials: R
authors.lastname: Zeng
authors.affiliation: Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN, USA.
authors.forename: A
authors.initials: A
authors.lastname: Wünschmann
authors.affiliation: Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN, USA.
authors.forename: R C
authors.initials: RC
authors.lastname: Kovi
authors.affiliation: Mason Eye Institute, School of Medicine, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA.
authors.forename: M L
authors.initials: ML
authors.lastname: Katz
mesh_terms: D000818:Animals; D001284:Atrophy / Q000473:pathology / Q000662:veterinary; D002371:Cat Diseases / Q000473:pathology*; D002415:Cats; D004252:DNA Mutational Analysis / Q000662:veterinary; D017809:Fatal Outcome; D006652:Histological Techniques / Q000662:veterinary; D007150:Immunohistochemistry / Q000662:veterinary; D008910:Minnesota; D009420:Nervous System / Q000473:pathology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology / Q000662:veterinary*
keywords: Batten disease; cat; lysosomal storage disease; neuronal ceroid-lipofuscinosis; neuropathology