A cure for Huntington’s disease may be a step closer after a study found brain changes linked to the condition could be detected 23 years before a diagnosis.
Symptoms of the inherited disease typically emerge in midlife between the ages of 30 and 50.
Scientists have sought to understand how the mutation can be present from birth but only cause problems in later years.
Now, research has shown that subtle brain changes can be detected decades before Huntington’s starts to affect movement, thinking and behaviour.
Experts at University College London studied 57 people with the condition and 46 without.
Blood and spinal fluid tests and brain scans revealed that people with Huntington’s gene expansion had subtle changes in their brains despite showing no clinical symptoms.
The findings, published in the journal Nature Medicine, suggest there is a treatment window decades before symptoms are present where those at risk are functioning normally despite having subtle biological signs of early neurodegeneration.
Identifying these early markers of disease could allow new treatments to be tested at a very early stage of the condition.
Study author Dr Rachael Scahill, of the UCLHuntington’s Disease Research Centre, said the study provided “unprecedented insights into the very earliest disease processes prior to the appearance of clinical symptoms, which has implications not only for Huntington’s disease but for other neurodegenerative conditions such as Alzheimer’s disease”.
Co-author Dr Mena Farag, also from UCL, added: “These findings are particularly timely as the Huntington’s disease therapeutic landscape expands and progresses toward preventive clinical trials.”
Huntington’s is thought to affect around 8,000 people in the UK, with a further 32,000 at risk, according to the Huntington’s Disease Association.
If a parent has the condition, their children have a 50/50 chance of inheriting the faulty gene developing the condition.
Symptoms include difficulty concentrating and memory lapses, depression, clumsiness, involuntary movements and mood swings.
