A test for the earliest stages of Huntington’s disease could be used to guide treatment, British researchers report today.
Professor Sarah Tabrizi of University College London, UK, and colleagues looked for a way of detecting Huntington’s disease decades before clinical symptoms show.
They compared the DNA of 64 people carrying the Huntington’s mutation against 67 similar people without the mutation. Participants were also given cognitive and behaviour tests, brain scans and tests of their spinal fluid.
On average, the participants were 24 years ahead of their predicted disease onset, based on age and genetics. All test results were normal except for a small increase in the spinal fluid of a neuronal protein called neurofilament light. This protein can indicate nerve cell damage, and was seen in 47% of the mutation carriers.
Neurofilament light values were linked to predicted time to disease onset, so the researchers believe it can identify a crucial point at which brain changes first start occurring.
Findings appear today in The Lancet Neurology. Professor Tabrizi says: “Ultimately, our goal is to deliver the right drug at the right time to effectively treat this disease – ideally we would like to delay or prevent neurodegeneration while function is still intact, giving gene carriers many more years of life without impairment.
“As the field makes great strides with the drug development, these findings provide vital new insights informing the best time to initiate treatments in the future, and represent a significant advance in our understanding of early Huntington’s.”
Fellow researcher Dr Rachael Scahill said: “Other studies have found that subtle cognitive, motor and neuropsychiatric impairments can appear 10-15 years before disease onset.
"We suspect that initiating treatment even earlier, just before any changes begin in the brain, could be ideal, but there may be a complex trade-off between the benefits of slowing the disease at that point and any negative effects of long-term treatment.”
Scahill, R. I. et al. Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington’s disease Young Adult Study (HD-YAS): a cross-sectional analysis. The Lancet Neurology 27 May 2020
http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(20)30143-5/fulltext
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