Simpler and reliable ALS diagnosis with blood tests

Date:
January 28, 2022
Source:
University of Gothenburg
Summary:
Blood tests may enable more accurate diagnosis of ALS at an earlier
stage of the disease. As described in a recent study, it involves
measuring the blood level of a substance that, as they have also
shown, varies in concentration depending on which variant of ALS
the patient has.



FULL STORY ========================================================================== Blood tests may enable more accurate diagnosis of ALS at an earlier stage
of the disease. As described in a study by researchers at University of Gothenburg and Umeaa University, it involves measuring the blood level
of a substance that, as they have also shown, varies in concentration
depending on which variant of ALS the patient has.


==========================================================================
The study, published in Scientific Reports, include Fani Pujol-Caldero'n, postdoctoral fellow at Sahlgrenska Academy, University of Gothenburg,
and Arvin Behzadi, doctoral student at Umeaa University and medical
intern at O"rnsko"ldsvik Hospital, as shared first authors.

Currently, it is difficult to diagnose amyotrophic lateral sclerosis
(ALS), the most common form of motor neuron disease, early in the course
of the disease.

Even after a prolonged investigation, there is a risk of misdiagnosis due
to other diseases that may resemble ALS in early stages. Much would be
gained from earlier correct diagnosis and, according to the researchers,
the current findings look promising.

Neurofilaments -- proteins with a special role in the cells and fibers
of nerves -- are the substances of interest. When the nervous system is damaged, neurofilaments leak into the cerebrospinal fluid (CSF) and in
lower concetrations in blood compared to CSF. In their study, scientists
at Umeaa University and the University Hospital of Umeaa, 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.

More sensitive methods of analysis 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 Umeaa 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.

Higher concentrations 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
to 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. Finding ALS early in the disease course may facilitate earlier administration of pharmaceutical treatment, before the muscles have
atrophied," Arvin Behzadi says.

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 of these patients die within two to four
years after the symptom onset, but roughly one in ten survive more
than ten years after the symptoms first appeared. Several genetic
mutations have been associated to ALS. At present, there is no curative treatment. Nevertheless, the current drug available has been shown to
prolong the survival in some ALS patients if it is administered in time.

========================================================================== Story Source: Materials provided by University_of_Gothenburg. Note:
Content may be edited for style and length.


========================================================================== Journal Reference:
1. Arvin Behzadi, Fani Pujol-Caldero'n, Anton E. Tjust, Anna
Wuolikainen,
Kina Ho"glund, Karin Forsberg, Erik Portelius, Kaj Blennow, Henrik
Zetterberg, Peter Munch Andersen. Neurofilaments can differentiate
ALS subgroups and ALS from common diagnostic mimics. Scientific
Reports, 2021; 11 (1) DOI: 10.1038/s41598-021-01499-6 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2022/01/220128141336.htm

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