ALS, the most common form of motor neuron disease, can take a long time to diagnose, but a blood test could help doctors spot the condition sooner
By Carissa Wong
13 September 2024
Biomarkers in blood can point towards certain conditions
Evgeniy Salov/Alamy
Amyotrophic lateral sclerosis (ALS) could one day be diagnosed with a blood test, after researchers have linked eight genetic markers to the condition.
People with ALS – the most common form of motor neuron disease – experience problems with walking, speaking, swallowing and breathing, which get worse over time and are eventually fatal. There is no cure, but treatments such as physiotherapy can reduce the impact of these symptoms.
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Doctors generally diagnose ALS using symptom assessments, tests that measure the electrical activity of nerves and brain scans. There is a lack of awareness around ALS and doctors need to track how someone’s symptoms unfold over time before making a diagnosis, which delays treatment, says Sandra Banack at the research organisation Brain Chemistry Labs in Wyoming.
To help diagnose the condition sooner, Banack and her colleagues have been analysing blood samples from small groups of people with and without ALS. This led them to eight genetic markers that seem to exist at different levels in the two groups.
To confirm this, the team has now looked at the blood samples of 119 people with ALS, taken from a biobank called the National ALS Biorepository, and 150 people without the condition, finding that the same eight markers still differ between these groups. The markers have been linked to neuron survival, brain inflammation, memory and learning, says Banack.