The Australian Chapter of BDSRA

Neuronal Ceroid Lipofuscinosis or Batten disease is a group of genetic disorders affecting children and adolescents. Also known as lysosomal storage disorders, the diseases as a group are the most common form of childhood neurological disorder. There is no treatment or cure and the disease leads to a relentless progressive deterioration in physical and mental abilities until death in childhood or teens. The disease is caused by mutation in one of eight known genes, although the function of the proteins affected by these mutations is not known in most forms of the disease.  Also known as a ‘storage disorder’ due to the characteristic accumulation of lipid products in brain cells.  The genetic mutations lead to a loss of function in critical metabolic pathways in neurons of the brain. This results in neuronal cell death and loss of nomal ability to speak, move about and feed and also affects cognition (thought processes). Children degenerate over many years and require full-time care and support, but ultimately the disease is always fatal.

Research has led to important progress in understanding the cause of Batten disease at a genetic level.  In most forms of the disease, the mutations affect neuronal pathways that control movement of proteins within the cell as well as lysosomal function (where unwanted proteins are degraded for re-use). However, researchers do not know how changes to these cellular processes cause death of neurons only in certain parts of the brain, or how this can be stopped.

 

Research into Batten Disease has rapidly progressed over the last few years (funded solely by donations and fundraising) and is undertaken by a small, yet dedicated team of scientists. This research has helped us to greater understand the different forms of Batten Disease and also aided in simplified diagnostics of the condition.