Blood tests may enable early ALS diagnosis

Swedish researchers have found that blood tests may enable more accurate diagnosis of amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease, at an earlier stage of the disease. As described in the journal Scientific Reports, these tests would involve measuring the blood level of a substance that varies in concentration depending on which variant of ALS the patient has.

ALS is a neurodegenerative syndrome that leads to loss of nerve cells in both the brain and the spinal cord, resulting in muscle weakness and atrophy. Most patients die within 2–4 years after symptom onset, but roughly one in 10 survive more than 10 years. While there is currently no curative treatment, the current drug available has been shown to prolong the survival in some ALS patients if it is administered in time; unfortunately, it is difficult to diagnose ALS early in the course of the disease, including a risk of misdiagnosis due to other diseases that may resemble ALS in early stages.

Neurofilaments — proteins with a special role in the cells and fibres of nerves — are the substances of interest in the new study. When the nervous system is damaged, neurofilaments leak into the cerebrospinal fluid (CSF) and in lower concentrations in blood compared to CSF. Scientists at Umeå University and the University Hospital of Umeå, as well as at the University of Gothenburg and Sahlgrenska University Hospital in Gothenburg, demonstrated that CSF and blood levels of neurofilaments can differentiate ALS from other diseases that may resemble early ALS.

Compared with several other neurological diseases, previous studies have shown higher concentrations of neurofilaments in CSF in ALS. Measuring neurofilament levels in the blood has previously been difficult since they occur at much lower concentrations compared to CSF. In recent years, however, new and more sensitive analytical methods have generated new scope for doing so.

The current study shows a strong association, in patients with ALS, between the quantity of neurofilaments in the blood and in CSF. The study is based on blood and CSF samples collected from 287 patients who had been referred to the Department of Neurology at the University Hospital of Umeå for investigation of possible motor neuron disease. After extensive investigation, 234 of these patients were diagnosed with ALS. These had significantly higher levels of neurofilaments in CSF and blood compared to patients who were not diagnosed with ALS.

Differences among various subgroups of ALS were also investigated and detected. Patients whose pathological symptoms started in the head and neck region had higher neurofilament concentrations in the blood and worse survival than patients whose disease onset began in an arm or a leg. The study has also succeeded in quantifying differences in blood levels of neurofilaments and survival for the two most common mutations associated with ALS.

“Finding suspected cases of ALS through a blood test opens up completely new opportunities for screening, and measuring neurofilaments in blood collected longitudinally enables easier quantification of treatment effects in clinical drug trials compared to longitudinal collection of CSF,” said Arvin Behzadi, a doctoral student at Umeå University. “Finding ALS early in the disease course may facilitate earlier administration of pharmaceutical treatment, before the muscles have atrophied.”

Image credit: ©angellodeco/Dollar Photo Club

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