Objective: To assess the usefulness of a defined set of blood-based and cerebrospinal fluid-based biomarkers in the differential diagnosis of neurodegenerative proteinopathies.

Background: The diagnostic process in the initial phase of parkinsonian syndrome might be extremely difficult; the phenotypes are frequently alike and mistakable. Therefore, the assessment of blood-based and cerebrospinal fluid-based biomarkers might be extremely useful in differentiating between particular phenotypes of neurodegenerative proteinopathies.

Method: The levels of α-synuclein (α-syn), tau protein (tau), phosphorylated tau protein (phospo-tau), ß-amyloid (ß-amyl), clusterin (clust), chromogranin A (chromogrA), cystatin C (cystC), neurofilament protein H (NfH), phosphorylated neurofilament protein H (p-NfH) and index tau/ß-amyl were examined in the blood serum (BS) and cerebrospinal fluid (CSF) of 137 patients suffering from parkinsonian syndrome and 92 gender- and age-matched healthy controls. There were 82 patients suffering from Lewy body disease (LBD), i.e., Parkinson´s disease (PD) and dementia with Lewy bodies (DLB), 30 patients suffering from 4-repeat tauopathy (4RT), i.e., progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), and 25 patients suffering from multiple system atrophy (MSA). The mean levels of examined biomarkers in the BS and CSF were mutually compared and statistically significant differences were detected.

Results: The differences in BS biomarker levels were significant when p-NfH values were compared between MSA and controls. The differences in CSF biomarker levels were significant when the p-NfH values were compared between MSA and controls, DLB and controls, and MSA and 4RT. They were also significant when the α-syn values were compared between MSA and controls, and DLB and controls, and when the tau/ß-amyl index has been compared between MSA and controls. In other mutual comparisons, the differences were not statistically significant.

Conclusion: The proposed set of biomarkers, when assessed in the CSF, is likely useful for the differential diagnosis of MSA vs. 4RT. It seems that these biomarkers do not yield helpful diagnostic information when assessed in the blood serum.

Supported by: the European Regional Development Fund Project ENOCH (No. Z.02.1.01/0.0/0.0/16_019/0000868).

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MDS Abstracts - https://www.mdsabstracts.org/abstract/csf-biomarkers-in-neurodegenerative-parkinsonism-can-distinguish-between-multiple-system-atrophy-and-4-repeat-tauopathies-but-not-between-disease-with-lewy-bodies-and-multiple-system-atrophy/