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First successful blood test for Creutzfeldt-Jakob disease
New procedure facilitates differential diagnosis and clinical studies

Ulm University

Rapidly progressing dementia, psychiatric abnormalities and movement disorders: these symptoms could indicate Creutzfeldt-Jakob disease. This deadly, neurodegenerative disease made the news in the 1990s when a new form spread from cattle to humans in the course of the BSE epidemic in Great Britain. However, it is much more common that instances of this disease are genetic or of unknown cause.
Researchers in PD Dr Petra Steinacker and Professor Markus Otto’s team at the Ulm University Clinic’s Department of Neurology (RKU) have now developed a new blood test that allows scientists to diagnose the disease and, to a certain extent, even predict its onset. The results of this study have been published in the journal Scientific Reports.

With Creutzfeldt-Jakob disease, misfolded proteins (“prions”) are deposited in the central nervous system and disrupt the function of the neurons. The brain develops an increasingly sponge-like structure, and the patient typically dies within a few months. A “prion infection”, however, is extremely rare – approximately one in a million people are affected. Up to now, the diagnosis of the disease has been based on clinical symptoms - such as a rapid decrease in mental abilities and motoric and visual dysfunctions, supplemented by EEG results and imaging procedures. Scientists also examine the patient’s cerebrospinal fluid, looking for specific pathogenic proteins. It is now possible to reproduce and thus verify the prion proteins from the cerebrospinal fluid in a laboratory setting.

Indications of approaching disease onset

Up to now, there has not been a multi-purpose blood test that can be used for an initial screening, in differential diagnostics and as a simple progression test in clinical studies. Now, researchers from Ulm, Gothenburg, Munich, Basel and Bratislava are presenting a form of blood diagnostics for Creutzfeldt-Jakob disease for the first time. This new procedure involves measuring brain-specific neurofilaments. An advantage to the new test is that increased neurofilament levels can be detected in patient samples shortly before the onset of the disease. “These early indicators are becomingly increasingly important as the first approaches for a causal therapy emerge”, says Professor Markus Otto. Up to now, it has only been possible to alleviate the symptoms of Creutzfeldt-Jakob disease.

In a comparative study with roughly 100 subjects (including 43 Creutzfeldt-Jakob patients) from Ulm and Göttingen, researchers have demonstrated that the new procedure is, at the very least, on par with established procedures. It is also possible that the new procedure could improve the diagnostics for another neurodegenerative disease, amyotrophic lateral sclerosis (ALS). “While the procedure of detecting the very specific prion proteins in cerebrospinal fluid is restricted to Creutzfeldt-Jakob disease, measuring neurofilaments in a blood test also enables early detection of the disease ALS, thus allowing prompt commencement of therapy”, explains Markus Otto.

Blood test soon in use

The reliability of the blood test will be assessed in the near future in a large-scale clinical study. Professor Otto is convinced that the new test will soon be available for clinical use – especially in differential diagnostics and for follow-up in clinical studies.
The study, which was published in Scientific Reports, received funding from the Federal Ministry of Education and Research (BMBF) and EU research funds.

Prof. Markus Otto (Foto: privat)
Prof. Markus Otto (Foto: privat)