Using MRI scans of the brain and genetic data of more than 33,000 adults from the UK Biobank, the study team was able to draw important gene-structure-function associations in essential tremor patients. They determined that specific gene abnormalities caused a thinning of the outer region of the brain, called the cortex, and a smaller cerebellum, which contains the movement and balance centre of the brain. When they zoomed into these changes at the molecular level, the scientists found that the brain’s innate ability to clear faulty proteins was lost.  

“This quality control system is faulty in tremor-related parts of the brain and disrupts the flow of messages along a key neural pathway (or the tremor network) involving the cerebellum, thalamus and motor cortex, and results in uncontrollable shaking of the hands”, noted Duke-NUS Assistant Professor Thomas Welton, a principal investigator at the National Neuroscience Institute and first author of the paper. A fundamental defect in the tremor network is then translated to erroneous relay of signals to the muscles, leading to uncoordinated movement. 

With a strong familial link evident in essential tremor, understanding specific genetic influences opens the door to targeted treatments. This study not only sheds light on the underlying mechanisms but also paves the way for developing personalised medical interventions. As research progresses, gathering more data from diverse populations, such as the ongoing efforts with Singaporean cohorts, could fine-tune treatment approaches, inching closer to restoring normalcy for millions affected by this disorder.