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Biomarkers and Diagnostics in Neurological Diseases
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Biomarkers and Diagnostics in Neurological Diseases

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: 25 September 2025 | Viewed by 705

Special Issue Editor

Dr. Maria Ioanna Stefanou

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Guest Editor
Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
Interests: transcranial magnetic stimulation; neurophysiology; stroke; COVID-19; neuroimmunology

Special Issue Information

Dear Colleagues,

Over the past decade, significant progress has been achieved in implementing novel biomarkers for diagnosing neurological diseases. Technological advancements have expedited the transition of biomarkers from bench to bedside, enabling their integration into diagnostic and therapeutic algorithms for diverse neurological conditions, including cerebrovascular, neurodegenerative, and neuroimmunological disorders.

This Special Issue highlights current research and fosters discussions on the evolving role of biomarkers in neurological diseases. Biomarkers are currently indispensable tools for neurologists, contributing to differential diagnosis, prognostic assessment, and treatment monitoring. Their sensitivity, specificity, and clinical validity remain critical areas of investigation.

Topics of interest include diagnostic biomarkers across neuroimaging, neurophysiology, serology, and cerebrospinal fluid (CSF) domains. Examples encompass the following:

(i) Established serum and CSF biomarkers, such as Aβ and tau peptides, facilitating early Alzheimer’s disease diagnosis;
(ii) Emerging biomarkers for differential diagnosis and treatment monitoring in neurodegenerative (e.g., amyotrophic lateral sclerosis) and neuroimmunological disorders (e.g., multiple sclerosis);
(iii) Lipoprotein(a) as a cerebrovascular biomarker for intracranial and extracranial atherosclerosis;
(iv) Inflammatory cytokines, Schwann cell‐specific proteins, and microRNAs for peripheral neuropathies;
(v) Neuroimaging biomarkers, including amyloid PET, tau PET, and advanced modalities like spectroscopy;
(vi) Translational neurophysiological biomarkers, such as transcranial magnetic stimulation (TMS)-evoked potentials for consciousness disorders;
(vii) Artificial intelligence (AI) applications for identifying reliable neurological biomarkers.

This Special Issue aims to advance understanding and clarify the clinical utility of biomarkers in neurology.

Dr. Maria Ioanna Stefanou
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • biomarkers
  • neurological diseases
  • diagnosis
  • lipoprotein(a)
  • neurofilament protein
  • tau peptide
  • neuroimaging

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Published Papers (2 papers)

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Review

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22 pages, 1486 KiB  
Review
Lipoprotein(a) as a Stroke Biomarker: Pathophysiological Pathways and Therapeutic Implications
by Evangelos Panagiotopoulos, Lina Palaiodimou, Aikaterini Theodorou, Georgia Papagiannopoulou, Eleni Bakola, Maria Chondrogianni, Klearchos Psychogios, Odysseas Kargiotis, Apostolos Safouris, Charalambos Vlachopoulos, Sotirios Giannopoulos, Marios Themistocleous, Vaia Lambadiari, Georgios Tsivgoulis and Maria-Ioanna Stefanou
J. Clin. Med. 2025, 14(9), 2990; https://doi.org/10.3390/jcm14092990 - 25 Apr 2025
Viewed by 215
Abstract
Lipoprotein(a) [Lp(a)] has attracted widespread interest as a potential biomarker for cerebrovascular diseases due to its genetically determined and stable plasma concentration throughout life. Lp(a) exhibits pro-atherogenic and pro-thrombotic properties that contribute to vascular pathology in both extracranial and intracranial vessels. Elevated Lp(a) [...] Read more.
Lipoprotein(a) [Lp(a)] has attracted widespread interest as a potential biomarker for cerebrovascular diseases due to its genetically determined and stable plasma concentration throughout life. Lp(a) exhibits pro-atherogenic and pro-thrombotic properties that contribute to vascular pathology in both extracranial and intracranial vessels. Elevated Lp(a) levels are strongly associated with large-artery atherosclerotic stroke, while data on its role in other ischemic subtypes and hemorrhagic stroke remains limited and inconsistent. Recent advances in Lp(a)-lowering therapies, such as antisense oligonucleotides and RNA-based agents, have demonstrated significant efficacy in reducing plasma Lp(a) levels. These advances have prompted increasing research into their potential application in the prevention and treatment of cerebrovascular diseases, aiming to determine whether Lp(a) reduction may translate into a reduced risk of stroke and large-artery atherosclerosis. This narrative review summarizes the current evidence on the association between Lp(a) and stroke, focusing on its utility in patient risk stratification. It also highlights existing knowledge gaps and outlines directions for future research, particularly in understanding subtype-specific effects and evaluating the clinical benefits of Lp(a)-targeted therapies. Full article
(This article belongs to the Special Issue Biomarkers and Diagnostics in Neurological Diseases)
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Other

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16 pages, 2545 KiB  
Systematic Review
Cognitive Impairment in Newly Diagnosed Patients with Multiple Sclerosis: A Systematic Review of Related Molecular Biomarkers and a Meta-Analysis of Associated Demographic and Disease-Related Characteristics
by Konstantina Stavrogianni, Vasileios Giannopapas, Dimitrios K. Kitsos, Niki Christouli, Vassiliki Smyrni, Athanasios K. Chasiotis, Alexandra Akrivaki, Evangelia-Makrina Dimitriadou, John S. Tzartos, Georgios Tsivgoulis, George P. Paraskevas, Dimitrios Peschos, Konstantinos I. Tsamis and Sotirios Giannopoulos
J. Clin. Med. 2025, 14(8), 2630; https://doi.org/10.3390/jcm14082630 - 11 Apr 2025
Viewed by 333
Abstract
Background/Objectives: Neuropsychological impairment (NI) is common in newly diagnosed patients with multiple sclerosis (pwMS). This study has two main objectives; the systematic review aims to describe the relationship between NI and molecular biomarkers in newly diagnosed pwMS, and the meta-analysis aims to [...] Read more.
Background/Objectives: Neuropsychological impairment (NI) is common in newly diagnosed patients with multiple sclerosis (pwMS). This study has two main objectives; the systematic review aims to describe the relationship between NI and molecular biomarkers in newly diagnosed pwMS, and the meta-analysis aims to explore the relationship between NI, age, disability status, and disease duration in this patient group. Methods: We conducted a systematic review, with 20 studies meeting the inclusion criteria. Out of these, 12 studies were included in the meta-analysis. We analyzed three key cognitive measures—the Symbol Digit Modalities Test (SDMT), the Paced Auditory Serial Addition Test (PASAT), and the Selective Reminding Test–long-term storage (SRT-LTS)—in relation to demographic and MS-related characteristics. Results: Neurofilament light chain (NfL) levels were consistently associated with NI, especially a slower information processing speed (IPS). Other biomarkers, including chitinase 3-like 1 (CHI3L1), brain-derived neurotrophic factor (BDNF), apolipoprotein E4 allele (APOE4), and vitamin D, also showed promising correlations with NI. A meta-regression analysis of 2380 pwMS indicated a negative association between SDMT score and disability status (p = 0.01). No significant associations were found for the PASAT with age, disability status, or disease duration (p > 0.05). Conclusions: These findings highlight the role of NfL as a biomarker related to NI in newly diagnosed pwMS and the association between IPS and disability status. Further research is needed with more homogeneous samples in terms of the disease duration, along with standardized cognitive assessments and a broader range of biomarkers, to improve our understanding and management of cognitive difficulties in the early stages of MS. Full article
(This article belongs to the Special Issue Biomarkers and Diagnostics in Neurological Diseases)
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