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Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)

Wager, K; Zdebik, A A; Fu, S; Cooper, J D; Harvey, R J; Russell, C


K Wager

A A Zdebik

S Fu

J D Cooper

R J Harvey

C Russell


The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children. They are characterised by childhood onset, visual failure, epileptic seizures, psychomotor retardation and dementia. CLN3 disease, also known as Batten disease, is caused by autosomal recessive mutations in the CLN3 gene, 80–85% of which are a ~1 kb deletion. Currently no treatments exist, and after much suffering, the disease inevitably results in premature death. The aim of this study was to generate a zebrafish model of CLN3 disease using antisense morpholino injection, and characterise the pathological and functional consequences of Cln3 deficiency, thereby providing a tool for future drug discovery. The model was shown to faithfully recapitulate the pathological signs of CLN3 disease, including reduced survival, neuronal loss, retinopathy, axonopathy, loss of motor function, lysosomal storage of subunit c of mitochondrial ATP synthase, and epileptic seizures, albeit with an earlier onset and faster progression than the human disease. Our study provides proof of principle that the advantages of the zebrafish over other model systems can be utilised to further our understanding of the pathogenesis of CLN3 disease and accelerate drug discovery.


Wager, K., Zdebik, A. A., Fu, S., Cooper, J. D., Harvey, R. J., & Russell, C. (2016). Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease). PLoS ONE, 11(6),

Journal Article Type Article
Acceptance Date May 27, 2016
Publication Date Jun 21, 2016
Deposit Date Aug 3, 2016
Publicly Available Date Aug 3, 2016
Journal PLoS One
Publisher Public Library of Science
Peer Reviewed Peer Reviewed
Volume 11
Issue 6
Public URL


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