“`html

EPG5 gene Errors Linked to Both Rare Neurodevelopmental Condition‍ and Parkinson’s Disease

Errors in a gene known to cause a serious neurodevelopmental condition in infants are also linked to the development of Parkinson’s disease in adolescence and adulthood,according to new research.

The ⁢study, published in the Annals of Neurology, looked at a gene called EPG5. Errors in this gene are⁤ already‍ known ⁤to cause Vici syndrome – a rare and severe inherited neurodevelopmental condition that presents early in life and⁤ affects multiple organ systems. Now ⁤researchers at King’s College ⁤London, University College London (UCL), the University of Cologne and the Max Planck Institute for Biology of Ageing have found that‍ errors in the same gene are linked to changes in nerve cells ‍that lead to more common age-related conditions like Parkinson’s⁢ disease and dementia.

Professor Heinz Jungbluth, ⁤Professor⁢ of Pediatric Neurology at King’s College London⁢ and lead and co-senior author of the study, said: “This research, supported‍ by patient organisations, was prompted by our earlier observation of an apparent increased⁢ Parkinson’s disease ‍risk ⁤in relatives of⁤ children with Vici‍ syndrome, after our team at King’s had found EPG5 to be a driver of this condition.

“Our work shows that, whilst rarely considered a priority, research into (ultra)rare conditions ‍such as Vici syndrome (where fewer than 10 children are currently known to have the condition in⁤ the UK) may provide vital insights into much⁢ more common ⁤disorders and have⁤ substantial public health benefits.

“Understanding ⁢the causes of these ⁤devastating and ofen life-limiting diseases is essential for therapy development and thus offers hope for patients and their families.”

Understanding the Study ⁤and its Findings

In the⁣ largest study of its‍ kind ⁣to‍ date, the ⁤team of scientists analysed clinical and genetic data from 211 individuals from across the world with rare errors in EPG5. They found that the ⁤effects of these genetic errors are broader and more variable than previously known – while some individuals had life-limiting forms⁢ of Vici syndrome identified before or shortly after birth, others⁤ showed much milder symptoms,⁢ including delay in movement, speech, and learning.

The researchers also discovered that some of the patients included in the study went ⁤on to develop a breakdown of nerve cells in adolescence or early adulthood that led to Parkinson’s disease ‍and dementia. ⁢Brain scans analysed in certain specific cases ⁣showed additional iron build-up ⁢in the brain, a feature