No abstract

The neuronal ceroid lipofuscinoses represent a group of severe childhood lysosomal storage diseases. With at least 13 identified variants they are the most common cause of inherited neurodegeneration in children. These diseases share common pathological characteristics including motor problems, vision loss, seizures, and cognitive decline, culminating in premature death. Currently, no form of the disease can be treated or cured, with only palliative care to minimise discomfort. This review focuses on current and potentially ground-breaking clinical trials, including small molecule, enzyme replacement, stem cell, and gene therapies, in the development of effective treatments for the various disease subtypes. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".

Studies on naturally occurring New Zealand and Australian ovine models of the neuronal ceroid-lipofuscinoses (Batten disease, NCLs) have greatly aided our understanding of these diseases. Close collaborations between the New Zealand groups at Lincoln University and the University of Otago, Dunedin, and a group at the University of Sydney, Australia, led to the formation of BARN, the Batten Animal Research Network. This review focusses on presentations at the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease), recent relevant background work, and previews of work in preparation for publication. Themes include CLN5 and CLN6 neuronal cell culture studies, studies on tissues from affected and control animals and whole animal in vivo studies. Topics include the effect of a CLN6 mutation on endoplasmic reticulum proteins, lysosomal function and the interactions of CLN6 with other lysosomal activities and trafficking, scoping gene-based therapies, a molecular dissection of neuroinflammation, identification of differentially expressed genes in brain tissue, an attempted therapy with an anti-inflammatory drug in vivo and work towards gene therapy in ovine models of the NCLs. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".