The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal inherited neurodegenerative diseases characterised by the accumulation of autofluorescent lipopigment in a variety of tissues. At least eigth different forms of NCL occur in humans and the disease has been identified in various animal species, including sheep and cattle. Although seven of the disease-causing genes have been identified in sheep, mice and humans, the pathomechanisms of this group of diseases is still not fully understood. In Australia, NCL was first described in 1988 in a Devon herd with approximately 150 cows joined per year (Harper et al., 1988). The disease is characterised predominantly by blindness and behavioural changes and appears to be inherited in an autosomal recessive mode of inheritance. After exclusion of affected and known or predicted carrier animals from the breeding herd, the prevalence of affected animals was initially reduced from 1-4 calves per year (1977-1992) to no affected calves for six years. However, the occurrence of three affected calves in 2001 and the need for well-characterised large animal models for medical research instigated this project to identify the gene involved in bovine NCL. Animal models have been very useful in the past to enhance the understanding of the disease and will be needed in the future to develop and validate treatments including enzyme replacement or gene therapy.

I. Tammen, E. Kurtz, A. J Gibson, B. Tier, H. W Raadsma

Proceedings of the World Congress on Genetics Applied to Livestock Production, Volume 2002. Session 13, , 13.42, 2002
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