Genetic Connection Between Childhood Brain Disorder and Adult Parkinson's Disease Uncovered

Recent research has identified a significant genetic link between a severe neurodevelopmental condition in infancy and the onset of Parkinson's disease during adulthood. The study, published in the Annals of Neurology, focuses on the gene EPG5, mutations of which are known to cause Vici syndrome — a rare, inherited disorder affecting multiple organ systems early in life. Interestingly, scientists at King's College London, UCL, the University of Cologne, and the Max Planck Institute discovered that errors in this same gene can alter nerve cell function, increasing the risk of neurodegenerative diseases such as Parkinson's and dementia later in life.

Professor Heinz Jungbluth, a leading pediatric neurologist involved in the study, noted that a family history of Parkinson's may be linked to descendants of children with Vici syndrome. "Our findings suggest that even rare genetic mutations traditionally associated with childhood disorders can provide valuable insights into common adult neurological diseases," he explained. "Understanding these shared mechanisms is crucial for developing targeted therapies."

The researchers analyzed genetic and clinical data from 211 individuals worldwide with EPG5 mutations. Their findings revealed a broad spectrum of symptoms, from mild developmental delays to severe neurodegeneration. Notably, some patients showed typical signs of Parkinson's disease in adolescence or early adulthood, accompanied by characteristic brain changes such as increased iron deposits.

Further experiments using patient-derived cells and model organisms demonstrated that mutations in EPG5 impair autophagy — a cellular process responsible for clearing damaged proteins and components. Disruptions in autophagy can lead to the accumulation of proteins associated with Parkinson's, shedding light on how early developmental errors can result in lifelong neurological issues.

Professor Jungbluth emphasized the importance of this research, stating, "Our work illustrates a biological continuum linking neurodevelopmental and neurodegenerative disorders, emphasizing that early genetic disturbances can influence later-life brain health."

Additionally, Dr. Reza Maroofian from UCL highlighted the significance of interdisciplinary collaboration in uncovering these mechanisms, suggesting that this research could pave the way for novel treatments targeting shared pathways involved in both developmental and degenerative brain diseases.

By expanding understanding of how errors in essential cellular processes like autophagy contribute to a range of neurological conditions, this study sets a foundation for future therapeutic strategies. It underscores the importance of studying rare genetic syndromes to unlock insights into prevalent neurodegenerative disorders.

Source: https://medicalxpress.com/news/2025-10-reveals-genetic-link-childhood-brain.html