Possible biomarker of MS-like autoimmune disease discovered (Pröbstel Lab)


A specific antibody of the type immunoglobulin A (IgA) helps to diagnose a disease related to multiple sclerosis. (Image: University of Basel)

It has been known for several years that the diagnosis “multiple sclerosis” conceals a whole range of different illnesses, each requiring customized treatment. Researchers at the University of Basel and the University Hospital of Basel have now described a possible new MS-like disease and explained how to diagnose it.

Multiple sclerosis (MS) is characterized by areas of inflammation in the central nervous system. The immune system attacks the body’s own structures and destroys the covering of nerve cells, known as the myelin sheath. The picture research has painted of the illness is somewhat more complicated, however. It can cause a variety of neurological symptoms, like paresthesia and paralysis of the limbs, which progressively or abruptly worsen. Which parts of the nervous system are affected varies substantially between individuals. A treatment may work for some patients – but make the condition worse in others.

“There’s a huge amount of diversity in how inflammatory autoimmune diseases of the central nervous system like multiple sclerosis present,” explains Professor Anne-Katrin Pröbstel of the University of Basel and University Hospital Basel. Researchers have been gradually discovering the key distinctive features of “atypical” cases of MS for the past ten years. A few of these autoimmune diseases have been given different names to better distinguish them from MS even though they also destroy the myelin sheath. Victims of these diseases often have inflammation in their spinal cords or optic nerves.

In a study of roughly 1,300 patients, Pröbstel’s team has now discovered a biomarker that may make it possible to differentiate another MS-like illness from the others. The researchers have reported their findings in the journal JAMA Neurology.

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Wearable Sensor Technologies to Assess Motor Functions in People With Multiple Sclerosis: Systematic Scoping Review and Perspective

Multimedia Appendix Wearable domains over time

Our systematic scoping review and perspective "Wearable Sensor Technologies to Assess Motor Functions in People With Multiple Sclerosis" has just been published in the Journal of Medical Internet Research. We have included 308 papers from 1997 to 2022 with different contexts: real-world, laboratory, and mixed. They assessed physical activity, gait, dexterity / tremor, and balance. Sensors included accelerometers, gyroscopes, magnetometers, touchscreens, and mechanical pedometers. We believe quasi-continuous remote monitoring of motor functions could help optimize the disease management in the future.

The accompanying web app allows interactive result exploration and the local citation network shows the connections between the 308 included papers and their co-authors.

Woelfle T, Bourguignon L, Lorscheider J, Kappos L, Naegelin Y, Jutzeler CR. Wearable Sensor Technologies to Assess Motor Functions in People With Multiple Sclerosis: Systematic Scoping Review and Perspective. J Med Internet Res 2023;25:e44428

View Full Article on PubMed

Figure 2C Wearable position context

Study increases precision of assessment of nerve damage in children

International research collaboration defines age-specific reference range for blood neurofilament light chain in pediatric health.

Blood Neurofilament Light Chain (NfL) is an innovative biomarker that specifically indicates neuroaxonal injury. However, its clinical application has been constrained due to the lack of established reference ranges for children and adolescents. Accurate monitoring of neuroaxonal injury in neurologic and systemic diseases is of pivotal importance at population and individual patient levels. In the paediatric population, tools capturing neuroaxonal injury with high specificity would substantially facilitate early and accurate detection of conditions associated with short- and long-term neurological disabilities with considerable socioeconomic impact. This may as well accelerate clinical trials evaluating the expanding library of targeted causal and disease-modifying treatments.

The Study

Led by Jens Kuhle at the University Hospital of Basel and Sven Wellmann at the University Hospital of Regensburg and an international team comprising top-tier institutes from Switzerland, Germany, and the United States conducted comprehensive analyses of NfL concentrations in more than 2,500 healthy children and adolescents. This ground-breaking study has been published in the esteemed journal, The Lancet Neurology.

View Full Article on Lancet Neurology. 


28 July 2023

Interview with Prof. Kuhle on the Swiss Multiple Sclerosis Cohort (SMSC) and blood biomarkers

Published on 17 July 2023 on Medical Tribune.

Article available in German only. 

Is sGFAP a Dynamic New Biomarker for Disease Progression in MS?

— An international team of experts certainly thinks so. Their new findings indicate that serum glial fibrillary acidic protein can predict worsening independent of relapse activity in multiple sclerosis.

A serum biomarker for disease progression in multiple sclerosis (MS) may be a game changer for research and, ultimately, for treatment of patients with the most devastating forms of the disease, indicate the results of a new study.

View Full Article on MEDPAGE TODAY published on 11 May 2023. 

Ellermann Prize 2022

Congratulations to Dr Pascal Benkert, Head of SMSC datacenter, and Stephanie Meier, candPhD, both members of Prof Jens Kuhle’s research group at Neurology/RC2NB who have been honored with the Ellermann Prize 2022 by the Mogens und Wilhelm Ellermann-Stiftung.

Their work published in Lancet Neurology demonstrated how concentrations of serum neurofilament light chain (sNfL) are a sensitive measure of disease activity in multiple sclerosis (MS). By creating a large reference database from control persons they were able to show that patients with increased levels of this structural neuronal protein in blood experience more disease activity in the next year based on two large cohorts of patients followed in the Swedish MS Registry and the Swiss MS Cohort Study. sNfL has meanwhile increasingly entered clinical care of MS patients.  

Annual Report 2022

We are proud to publish our Annual Report 2022.

2022 has been another year of transformation and growth for RC2NB. Important milestones were achieved across all RC2NB’s research groups and a new 4th workstream “Pragmatic Trials and Real World Evidence” now complements the other three.

Please find the link to the Report here. If you would like to receive a hardcopy, please contact us.

Swiss Multiple Sclerosis Society Award

Congratulations to Prof. Jens Kuhle and Prof. Tobias Derfuss, two RC2NB researches, who have been honored with an award by the Swiss Multiple Sclerosis Society. The recognition, endowed with 100,000 Swiss francs, goes to both of them for their exceptional contributions to MS research and their great commitment to those affected by the disease.

Both work in neurology at the University Hospital Basel (USB) and collaborate closely with each other at the RC2NB. They both sit on the medical-scientific advisory board of the Swiss MS Society.


Read more on the Medinside Website.

Last updated 31 Jan 2023

Bing Research Prize 2022

Congratulations to Prof. Cristina Granziera, Workstream Leader and Deputy Head of RC2NB for receiving the highly prestigious Bing Research Prize 2022 awarded by the Swiss Academy of Medical Sciences. 

The Prize was awarded in appreciation of her important contributions in the interface of clinical neurology, neuroradiology and medical physics. Applying highly innovative, advanced neuroimaging methods, allows her to better characterize the changes occurring in the brain and spinal cord of patients suffering from multiple sclerosis and to identify biomarkers that offer a very promising foundation for novel diagnostic procedures. Prof. Granziera’s results, internationally recognized and validated in large longitudinal clinical studies, have a direct impact on the treatment and follow-up of patients with multiple sclerosis. 

Last updated 31 Jan 2023

Clarivate Highly Cited Researchers™ list 2022

With Ludwig Kappos and Jens Kuhle two RC2NB researchers have been named on the Clarivate Highly Cited Researchers™ list 2022.

The list identifies researchers based on the citation counts of their work in the last ten years, indicating the impact of their work. Clarivate™  states that “Of the world’s population of scientists and social scientists, Highly Cited Researchers™ are 1 in 1,000.”

In 2022, Clarivate™ counts a total of 6938 researchers from 21 research fields and 69 countries.

A blood marker for multiple sclerosis progression

For the third time in a row, Jens Kuhle, Head of Multiple Sclerosis Centre at the University Hospital Basel and DKF/DBM research group leader, is awarded an SNF project grant for the development of biomarkers for the detection and prognosis of disease activity in multiple sclerosis (MS) on a personalised level.

Read more on the Department of Clinical Research website

DreaMS study opened for clinical study recruitment and reached first milestone

More than 50 people with multiple sclerosis support the development of the novel dreaMS digital health app, by participating in a clinical validation study led by the Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB).

The dreaMS app provides so-called digital biomarkers, measurements of health status and disease progression collected in the usual everyday life in a real-world environment by using a smartphone. Digital biomarkers aim to detect subtle disease progression earlier and more comprehensively, thus complementing standard assessments by neurologists, laboratory or neuroradiological examinations. The dreaMS app is part of a digital platform for optimized disease management to better involve patients and improve the communication with their health care team. DreaMS and the digital platform are developed jointly by the RC2NB and Healios AG, Basel.

The DreaMS validation study started in April 2022, and with the enrollment of 50 patients, has now reached an important milestone.

Participants in the dreaMS study install the dreaMS app on their own smartphone and digital biomarkers are then collected over a period of 2 years. This digital information will be compared with state of the art established clinical, imaging, and body fluid assessments obtained in the framework of the Swiss MS Cohort Study over the study period. Good agreement would indicate high validity of the digital biomarkers. Digital biomarkers are expected to allow earlier and more comprehensible detection of subtle disease progression and in the future allow to tailor treatment more individually.

PD Dr Johannes Lorscheider, PI of this study, said, ‘The DreaMS validation study will provide valuable information on the reliability and accuracy of monitoring disease evolution and treatment response with a digital app. With validated digital biomarkers, we hope to further improve the care of our patients.’

Professor Ludwig Kappos, director of the RC2NB said, ‘We are very grateful to all our collaborators, funders and partners who are supporting us at RC2NB to explore this fascinating future field and to find and establish generally accepted digital measures for better care of persons with MS and other neurological diseases’.

The news has also been published by the University Hospital Basel on their website.  

Last updated 31 Oct 2022

Last updated 31 Oct 2022

Reliability and acceptance of dreaMS, a software application for people with multiple sclerosis: a feasibility study

We just published the results of the first reliability and acceptance assessment of the dreaMS software application in the Journal of Neurology.

Woelfle T, Pless S, Reyes O, Wiencierz A, Feinstein A, Calabrese P, Gugleta K, Kappos L, Lorscheider J, Naegelin Y. Reliability and acceptance of dreaMS, a software application for people with multiple sclerosis: a feasibility study. J Neurol. 2022 Aug 30:1–10


Last updated: 5 Sept 2022

High-dimensional immune profiling identifies a biomarker to monitor dimethyl fumarate response in multiple sclerosis

The paper "High-dimensional immune profiling identifies a biomarker to monitor dimethyl fumarate response in multiple sclerosis" has published in PNAS

Understanding the immunobiology of multiple sclerosis remains an unresolved challenge. Distinctive features of therapeutic response to effective treatments are one important source of insight into the underlying pathomechanisms. Here, we studied dimethyl fumarate, a routinely administered but mechanistically poorly understood compound. We developed an approach using multipanel immunophenotyping by mass cytometry in conjunction with a weakly supervised machine-learning algorithm to facilitate unprejudiced identification of rare but specific immune cell populations accounting for beneficial treatment response. This approach allowed identification of a subset of antigen-experienced T helper cells that are preferentially depleted in responding individuals. As a biomarker, this subset may guide clinical stratification.


Last updated 9 Aug 2022

Last updated 16 May 2022

Last updated 17 Feb 2022