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Vet Pathol. 2014 Jul;51(4):796-804. doi: 10.1177/0300985813502818. Epub 2013 Sep 11.

Characterization of neuronal ceroid-lipofuscinosis in 3 cats.

Author information

1
Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN, USA chalkley@umn.edu.
2
Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN, USA.
3
Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA.
4
Mason Eye Institute, School of Medicine, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA.

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.

KEYWORDS:

Batten disease; cat; lysosomal storage disease; neuronal ceroid-lipofuscinosis; neuropathology

PMID:
24026940
DOI:
10.1177/0300985813502818
[Indexed for MEDLINE]
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