A diagnostic test for ALS

June 19, 2017, VIB (the Flanders Institute for Biotechnology)

Researchers at VIB, KU Leuven, and UZ Leuven, in collaboration with researchers at the University of Jena, have demonstrated that measuring neurofilaments provides reliable confirmation of an ALS diagnosis. This diagnostic test represents a significant step forward because valuable time is still lost at present in diagnosing ALS. Diagnosis takes an average of one year from the first symptoms. The researchers hope that these tests will allow treatment to be started sooner.

ALS, a diagnosis feared by patients and doctors alike

Wednesday 21 June is World ALS Day. It is a day to stop and consider amyotrophic lateral sclerosis, or ALS for short. This neurodegenerative disease causes the death of motor neurons, the nerve cells controlling the muscles. The result is a loss of strength which spreads throughout the body. Besides the muscles in the limbs, it also affects the muscles used for swallowing, breathing, and speaking. The average survival rate after the onset of the first symptoms is just 2 to 5 years. ALS is relatively rare; about 400 people a year are diagnosed with the condition in Belgium.

As Prof. Philip Van Damme (VIB-KU Leuven, UZ Leuven) tells us: "Despite the severity of the disease, an ALS relies heavily on the physician's clinical acuity. The typical disease progression of ALS, with the loss of strength extending from one body region to another, allows a definite diagnosis. In the early stages of the disease, diagnosis is difficult. Consequently the average time between the first symptoms and diagnosis is approximately one year. Better tests are needed for a faster ALS diagnosis, which we hope to achieve with this ."

Neurofilaments can help to diagnose ALS

Neurofilaments are structural proteins in the cytoskeleton, which are present in high concentrations in motor neurons. It has been known for a long time that the lumbar fluid in ALS patients contains a higher concentration of neurofilaments, perhaps because they are released from sick . Researchers led by Prof. Koen Poesen (Laboratory of Medicine, UZ Leuven, and the Laboratory for Molecular Neurobiomarker Research, KU Leuven) and Prof. Philip Van Damme (Neurology UZ Leuven, and VIB-KU Leuven Center for Brain Research) have carried out detailed research into this phenomenon.

Prof. Koen Poesen (UZ Leuven, KU Leuven): "We have demonstrated that a certain type of neurofilament (pNfH, phosphorylated neurofilament heavy) in particular increases sharply in the lumbar fluid of ALS patients. This is even true when compared to patients presenting loss of strength symptoms due to other conditions (known as ALS mimics). The test meets all the requirements for use as a reliable diagnostic test. However, it requires an epidural because we can still only reliably measure the neurofilaments in the 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.

Explore further: Gut flora may lead to better diagnosis tool for liver disease

More information: Koen Poesen et al. Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease, Neurology (2017). DOI: 10.1212/WNL.0000000000004029

Related Stories

Gut flora may lead to better diagnosis tool for liver disease

May 23, 2016
Primary sclerosing cholangitis, also known as PSC, is a liver disease with no effective medical treatment. Liver transplantation is the only proven long-term treatment of PSC, although only a fraction of individuals with ...

Tau prevents synaptic transmission at early stage of neurodegeneration

May 19, 2017
Tau proteins are involved in more than twenty neurodegenerative diseases, including various forms of dementia. These proteins clump together in patients' brains to form neuronal tangles: protein aggregation that eventually ...

Cancer treatment during childhood linked to cognitive problems later in life

June 14, 2017
Young adults who had chemotherapy as a child have decreased cognitive flexibility and a weaker short-term memory. Their ability to concentrate and long-term memory are largely unaffected. Researchers from KU Leuven (University ...

Mitochondrial lipids as potential targets in early onset Parkinson's disease

February 10, 2017
A team of researchers led by Patrik Verstreken (VIB–KU Leuven) have identified an underlying mechanism in early onset Parkinson's. Using flies, mice and patient cells, the team focused on cardiolipin, a fat unique to cells' ...

Blood test can predict onset and track progression of Huntington's disease

June 7, 2017
The first blood test that can predict the onset and progression of Huntington's disease has been identified by a UCL-led study.

New toxic pathway identified for protein aggregates in neurodegenerative disease

March 17, 2017
Led by professor Ludo Van Den Bosch (VIB-KU Leuven), scientists from Belgium, the UK and the US have identified new processes that form protein "clumps" that are characteristic of amyotrophic lateral sclerosis (ALS) and frontotemporal ...

Recommended for you

Animal study connects fear behavior, rhythmic breathing, brain smell center

April 20, 2018
"Take a deep breath" is the mantra of every anxiety-reducing advice list ever written. And for good reason. There's increasing physiological evidence connecting breathing patterns with the brain regions that control mood ...

Mechanism behind neuron death in motor neurone disease and frontotemporal dementia discovered

April 20, 2018
Scientists have identified the molecular mechanism that leads to the death of neurons in amyotrophic lateral sclerosis (also known as ALS or motor neurone disease) and a common form of frontotemporal dementia.

When there's an audience, people's performance improves

April 20, 2018
Often, people think performing in front of others will make them mess up, but a new study led by a Johns Hopkins University neuroscientist found the opposite: being watched makes people do better.

Signaling between neuron types found to instigate morphological changes during early neocortex development

April 20, 2018
A team of researchers from several institutions in Japan has found that developing neocortex neurons in mammals undergo a morphological transition from a multipolar shape to a bipolar shape due at least partially to signaling ...

MRI technique detects spinal cord changes in MS patients

April 20, 2018
A Vanderbilt University Medical Center-led research team has shown that magnetic resonance imaging (MRI) can detect changes in resting-state spinal cord function in patients with multiple sclerosis (MS).

Gene variant increases empathy-driven fear in mice

April 20, 2018
Researchers at the Center for Cognition and Sociality, within the Institute for Basic Science (IBS), have just published as study in Neuron reporting a genetic variant that controls and increases empathy-driven fear in mice. ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.