Batten disease: dementia in children

Learning to walk, talk and feed oneself are milestones for every child. If, a few years later, these abilities are lost and, in addition, visual disturbances, epilepsy, memory loss and other cognitive impairments occur, then the child is most likely affected by Batten disease. Researchers at the University of Graz, Graz University of Technology and the Medical University of Graz have now discovered the cause of one form of this rare, hereditary condition. The findings were recently published in the specialist journal *Nature Cell Biology*.

The study focuses on a lipid molecule known as BMP. It is found primarily in the ‘cellular stomachs’, the lysosomes. ‘These break down parts of the cell that are no longer needed. The resulting material is then exported and recycled. Among other things, BMP plays a key role in the breakdown and processing of fat-like substances,” explains Robert Zimmermann from the University of Graz. He summarises the study’s findings as follows: “Mutations in the CLN8 gene can result in the cessation of BMP production. This results in a lysosomal storage disorder known as Batten disease or neuronal ceroid lipofuscinosis. Until now, it was not known exactly how closely the CLN8 gene defect is linked to impaired BMP synthesis in the cells.” 

Due to the lack of BMP, more and more cellular waste accumulates in the body. The disease progresses slowly, which is why it is not apparent at birth but usually only becomes evident and is diagnosed from early childhood onwards. Nerve cells in the brain are particularly susceptible. This is why neurological symptoms are often the first to appear. There is no cure for Batten disease. However, these findings open up avenues for new therapeutic approaches: “It would be interesting to investigate whether BMP supplementation could compensate for the deficiency caused by the genetic defect,” says Zimmermann, outlining a possible approach that would need to be tested in further research. 

Researchers from Cambridge support the findings 

The publication was produced as part of the “Lipid Hydrolysis” Special Research Area, funded by the Austrian Science Fund (FWF), and BioTechMed-Graz, the research consortium comprising the University of Graz, the Medical University of Graz and Graz University of Technology. In addition to the research group led by Robert Zimmermann and lead author Johannes Breithofer (both from the University of Graz), the teams led by Rolf Breinbauer (Graz University of Technology) and Dagmar Kratky (Medical University of Graz) were also involved. The researchers also worked closely with scientists from the University of Cambridge. Their colleagues from the UK, led by Kasparas Petkevicius, confirmed the findings in a separate publication.

Source: University of Graz, 22 September 2026