Neuronal ceroid-lipofuscinosis in Borderdale sheep

Authors: Palmer DN, Kay GW, Jolly RD, Arthur DG
Publication: New Zealand Veterinary Journal, Volume 50, Issue 5, pp 199-202, Oct 2002
Publisher: Taylor and Francis

Animal type: Livestock, Production animal, Ruminant, Sheep
Subject Terms: Genetics, Inherited disease/conditions, Nervous system/neurology, Pathology
Article class: Clinical Communication

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Abstract:
AIM: To describe the gross and histological lesions of a neurological disease in Borderdale sheep characterised clinically by blindness and circling, as a basis to its classification.
METHODS: Formalin-fixed tissues were processed into paraffin wax and epoxy resin for light and electron microscopy of variously stained sections.
RESULTS: Lesions were those of a lysosomal storage disease with severe neurodegeneration of the cerebral cortex. The staining reactions, autofluorescence and ultrastructure of storage material allowed the diagnosis of neuronal ceroid-lipofuscinosis associated with the accumulation of subunit-c of mitochondrial ATP synthase.
CONCLUSIONS: The severity of neurodegeneration and minor differences in the ultrastructure of storage material implied that this was a different disease from other forms of ovine ceroid-lipofuscinosis that accumulate subunit-c of mitochondrial ATP synthase. An autosomal recessive mode of inheritance is considered probable. Although of only minor economic importance, this disease may be important to research into the group of ceroid-lipofuscinoses as a whole.
KEY WORDS: Sheep, neuronal ceroid-lipofuscinosis, subunit-c, mitochondrial ATP synthase

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