Scientists have discovered that subtle changes in the brains of people with Huntington’s disease begin roughly two decades before patients show overt symptoms, opening a potential window for early intervention in this devastating genetic disease. The discovery could change the way doctors treat currently incurable diseases.
The study, published in the journal Nature Medicine by scientists from University College London (UCL) and collaborating institutions, shows that while cognitive and motor function remain normal, detectable changes in the brain occur long before clinical diagnosis.
“Our study confirms the importance of somatic CAG repeat expansions in driving the earliest neuropathological changes in the disease in living humans through Huntington’s disease gene amplification,” said lead author from the University College London Huntington’s Disease Research Center. Professor Sarah Tabrizi said.
early warning signs
The team studied 57 people who carried the Huntington’s disease gene expansion, who were on average 23 years younger than the predicted age at clinical diagnosis. Over about five years, they compared these people with 46 control participants matched for age, gender and education.
Through advanced imaging, blood analysis and spinal fluid testing, scientists found elevated levels of specific proteins that indicate neuronal damage, as well as reduced levels of other proteins that reflect changes in the brain’s response to neurodegeneration.
Crucially, while these biological changes were occurring, the study participants did not think, move, or behave worse than the control group.
Treatment window opens
The findings suggest it can take decades before symptoms appear, and that future treatments may prevent or delay the onset of the disease. This is especially important because Huntington’s disease is hereditary, and children of affected parents have a 50% chance of inheriting the disease.
“These findings pave the way for future preventive clinical trials,” explains Rachael Scahill, Ph.D., co-first author of the study. “This unique cohort provides us with unprecedented insights into the earliest disease processes before the onset of clinical symptoms, which has implications not only for Huntington’s disease but also for other neurodegenerative diseases.”
Looking to the future
The research team predicts that clinical trials aimed at preventing Huntington’s disease may become a reality within the next few years. Their work has identified strong markers of early disease progression that can be used to monitor the effectiveness of future treatments.
With Huntington’s disease affecting 5-10 out of every 100,000 people worldwide, these findings raise hope that one day it may be possible to intervene before the disease begins to affect daily life. The research also provides a model for studying other neurodegenerative diseases, potentially opening new avenues for early detection and treatment of diseases such as Alzheimer’s disease.
Professor Tabriz acknowledged the study participants’ dedication over the five-year period and noted that their commitment may help make preventive clinical trials for Huntington’s disease a reality in the coming years.
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