Scientists have discovered that a rare gene problem, already known to cause a serious brain condition in babies, is also connected to Parkinson’s disease and dementia in later life.
This finding could help doctors better understand how these illnesses begin and possibly lead to better treatments in the future.
The gene in question is called EPG5. When it doesn’t work properly, it can lead to Vici syndrome, a rare condition that affects many parts of the body and usually shows up early in life.
Children with Vici syndrome often have delays in movement, speech, and learning. There are very few known cases in the UK—fewer than 10 children—but this rare condition might hold clues to much more common diseases.
A team of researchers from King’s College London, University College London (UCL), the University of Cologne, and the Max Planck Institute for Biology of Ageing studied EPG5 in 211 people from around the world.
They found that while some people with EPG5 errors had severe forms of Vici syndrome from birth, others had much milder symptoms. Some of these individuals went on to develop Parkinson’s disease or dementia during their teenage years or early adulthood.
Brain scans from these patients also showed higher levels of iron in the brain, which is seen in other similar brain disorders. This discovery highlights that damage in the brain can begin very early in life—even if symptoms don’t appear until much later.
The EPG5 gene plays a key role in a process called autophagy. This is the body’s way of cleaning out damaged parts in cells and recycling them or throwing them away. When EPG5 isn’t working right, cells can’t clear out waste properly. This causes the build-up of damaged proteins, including those linked to Parkinson’s disease.
To study this process, the scientists used cells from patients and tested the effects in animals like mice and roundworms. These tests showed that when the EPG5 gene is faulty, the cell’s cleanup system breaks down. This failure may lead to nerve damage and brain disorders over time.
Professor Heinz Jungbluth, a lead researcher from King’s College London and a doctor at Evelina London Children’s Hospital, says the findings show that damage to the brain can be part of a lifelong process.
A single genetic problem could cause early brain development issues and later brain degeneration. This discovery also shows that studying rare conditions can help us understand more common ones, like Parkinson’s.
Dr. Reza Maroofian from UCL added that this study shows how childhood brain disorders and adult diseases like dementia can be connected. Both may start with similar issues in how cells function.
Finally, the researchers hope their work will lead to treatments that target this shared problem in the body’s waste-disposal system. By understanding how autophagy goes wrong, doctors may one day develop ways to treat or prevent both rare and common brain conditions.
This study is important because it connects a rare childhood brain disorder with more common diseases like Parkinson’s and dementia. The research shows that the same gene problem can cause symptoms at very different stages in life.
This also suggests that fixing the cell’s cleanup system could help prevent or treat these diseases. Studying rare diseases may seem less urgent, but this research proves they can hold big clues to major health issues.
If you care about Alzheimer’s disease, please read studies about root cause of Alzheimer’s disease and new treatment and Scientists find the link between eye disease glaucoma and Alzheimer’s disease.
For more health information, please read studies about new way to treat Alzheimer’s disease and Fluctuating cholesterol and triglyceride levels are linked to Alzheimer’s disease.
The study is published in Annals of Neurology.
Copyright © 2025 Knowridge Science Report. All rights reserved.
