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Cellular models of batten disease

Minnis, C J; Thornton, C D; FitzPatrick, L M; McKay, T R


C J Minnis

C D Thornton

L M FitzPatrick

T R McKay


The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases caused by mutations in 13 known genes. All except one NCL is autosomal recessive in inheritance, with similar aetiology and characterised by the accumulation of autofluorescent storage material in the lysosomes of cells. Age of onset and the rate of progression vary between the NCLs. They are collectively one of the most common lysosomal storage diseases, but the enigma remains of how genetically distinct diseases result in such remarkably similar pathogenesis. Much has been learnt from cellular studies about the function of the proteins encoded by the affected genes. Such research has utilised primitive unicellular models such as yeast and amoeba containing gene orthologues, cells derived from naturally occurring (sheep) and genetically engineered (mouse) animal models or patient-derived cells. Most recently, patient-derived induced pluripotent stem cell (iPSC) lines have been differentiated into neural cell-types to study molecular pathogenesis in the cells most profoundly affected by disease. Here, we review how cell models have informed much of the biochemical understanding of the NCLs and how more complex models are being used to further this understanding and potentially act as platforms for therapeutic efficacy studies in the future.


Minnis, C. J., Thornton, C. D., FitzPatrick, L. M., & McKay, T. R. (2019). Cellular models of batten disease.

Journal Article Type Review
Acceptance Date Sep 13, 2019
Publication Date Oct 23, 2019
Deposit Date Nov 12, 2019
Publicly Available Date Sep 7, 2020
Journal Biochimica et Biophysica Acta-Molecular Basis of Disease
Peer Reviewed Peer Reviewed
Public URL


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