In a new paper, researchers have demonstrated that measuring neurofilaments provides reliable confirmation of an ALS diagnosis.

Neurofilaments are structural proteins in the cytoskeleton, which are present in high concentrations in motor neurons. It has long been known that the lumbar fluid in ALS patients contains a higher concentration of neurofilaments, perhaps because they are released from sick motor neurons. Now, researchers have carried out detailed research into this phenomenon, which has been published in Neurology.

The scientists say that they have demonstrated that a particular kind of neurofilament (pNfH, phosphorylated neurofilament heavy) can be shown to markedly increase in ALS patients’ lumbar fluid.

The researchers have also demonstrated that there is a good correlation between the degree of neurofilament increase and the extent of the motor neuron loss. This indicates that the test reflects the underlying disease process. Whether the implementation of the test will also lead to a shorter time before diagnosis is currently still being researched.

This diagnostic test represents a significant step forward because valuable time is still lost at present in diagnosing ALS, with diagnosis currently taking an average of one year from the first symptoms. The researchers hope that these tests will allow treatment to be started sooner.

Paper: “Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease”
Reprinted from materials provided by VIB – Flanders Interuniversity Institute for Biotechnology.