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Biomarkers in Common and Rare Neurological Disorders
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Biomarkers in Common and Rare Neurological Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 19019

Special Issue Editor

Dr. Guido Primiano

E-Mail Website
Guest Editor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Interests: neurogenetics; neurological diseases; neurodegeneration; clinical neurophysiology; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Neurological disorders are the second leading cause of death and the leading cause of disability worldwide. Despite the spread of strategies aimed at the prevention and treatment of some of the most common neurological diseases with a greater impact on health systems, such as cerebrovascular diseases, the prevalence, incidence, and disability and mortality rates of these disorders are rising globally.

In this context, translational research plays a key role, with increasing evidence that the identification of reliable disease biomarkers is crucial in the management of common and rare neurological diseases, from diagnosis to evaluation of the therapeutic outcome.

Although initially, scientific efforts for the identification of biomarkers focused on the most common neurodegenerative diseases (e.g., Alzheimer’s disease and Parkinson’s disease), the increasing number of clinical trials of investigational therapies and/or the availability of disease-modifying therapies in rare neurological diseases (e.g., mitochondrial diseases, Pompe disease, spinal muscular atrophy) makes it urgent to establish biological indicators in these disorders, for monitoring disease progression, prognosis and the efficacy of pharmacological treatment.

For this Special Issue, titled “Biomarkers in Common and Rare Neurological Disorders”, we invite original research articles and state-of-the-art reviews on biomarkers able to increase diagnostic accuracy, defining disease prognosis, stratifying patients, monitoring the therapeutic response and acting as surrogate endpoints in the context of clinical trials and experimental studies, in both common and rare neurological diseases.

Dr. Guido Alessandro Primiano
Guest Editor

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Keywords

  • biomarkers
  • multi-omics
  • personalized medicine
  • neurological disorders
  • neurogenetic diseases
  • mitochondrial diseases
  • spinal muscular atrophy
  • neurodegenerative diseases

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Published Papers (5 papers)

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Research

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10 pages, 1804 KiB  
Article
Serum Neurofilament Light Chain as Biomarker for Cladribine-Treated Multiple Sclerosis Patients in a Real-World Setting
by Michael Seiberl, Julia Feige, Patrick Hilpold, Wolfgang Hitzl, Lukas Machegger, Arabella Buchmann, Michael Khalil, Eugen Trinka, Andrea Harrer, Peter Wipfler and Tobias Moser
Int. J. Mol. Sci. 2023, 24(4), 4067; https://doi.org/10.3390/ijms24044067 - 17 Feb 2023
Cited by 6 | Viewed by 2321
Abstract
Serum neurofilament light chain (sNfL) is an intensely investigated biomarker in multiple sclerosis (MS). The aim of this study was to explore the impact of cladribine (CLAD) on sNfL and the potential of sNfL as a predictor of long-term treatment response. Data were [...] Read more.
Serum neurofilament light chain (sNfL) is an intensely investigated biomarker in multiple sclerosis (MS). The aim of this study was to explore the impact of cladribine (CLAD) on sNfL and the potential of sNfL as a predictor of long-term treatment response. Data were gathered from a prospective, real-world CLAD cohort. We measured sNfL at baseline (BL-sNfL) and 12 months (12Mo-sNfL) after CLAD start by SIMOA. Clinical and radiological assessments determined fulfilment of “no evidence of disease activity” (NEDA-3). We evaluated BL-sNfL, 12M-sNfL and BL/12M sNfL ratio (sNfL-ratio) as predictors for treatment response. We followed 14 patients for a median of 41.5 months (range 24.0–50.0). NEDA-3 was fulfilled by 71%, 57% and 36% for a period of 12, 24 and 36 months, respectively. We observed clinical relapses in four (29%), MRI activity in six (43%) and EDSS progression in five (36%) patients. CLAD significantly reduced sNfL (BL-sNfL: mean 24.7 pg/mL (SD ± 23.8); 12Mo-sNfL: mean 8.8 pg/mL (SD ± 6.2); p = 0.0008). We found no correlation between BL-sNfL, 12Mo-sNfL and ratio-sNfL and the time until loss of NEDA-3, the occurrence of relapses, MRI activity, EDSS progression, treatment switch or sustained NEDA-3. We corroborate that CLAD decreases neuroaxonal damage in MS patients as determined by sNfL. However, sNfL at baseline and at 12 months failed to predict clinical and radiological treatment response in our real-world cohort. Long-term sNfL assessments in larger studies are essential to explore the predictive utility of sNfL in patients treated with immune reconstitution therapies. Full article
(This article belongs to the Special Issue Biomarkers in Common and Rare Neurological Disorders)
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18 pages, 2058 KiB  
Article
Establishing In-House Cutoffs of CSF Alzheimer’s Disease Biomarkers for the AT(N) Stratification of the Alzheimer Center Barcelona Cohort
by Adelina Orellana, Pablo García-González, Sergi Valero, Laura Montrreal, Itziar de Rojas, Isabel Hernández, Maitee Rosende-Roca, Liliana Vargas, Juan Pablo Tartari, Ester Esteban-De Antonio, Urszula Bojaryn, Leire Narvaiza, Emilio Alarcón-Martín, Montserrat Alegret, Daniel Alcolea, Alberto Lleó, Lluís Tárraga, Vanesa Pytel, Amanda Cano, Marta Marquié, Mercè Boada and Agustín Ruizadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2022, 23(13), 6891; https://doi.org/10.3390/ijms23136891 - 21 Jun 2022
Cited by 19 | Viewed by 3655
Abstract
Background: Clinical diagnosis of Alzheimer’s disease (AD) increasingly incorporates CSF biomarkers. However, due to the intrinsic variability of the immunodetection techniques used to measure these biomarkers, establishing in-house cutoffs defining the positivity/negativity of CSF biomarkers is recommended. However, the cutoffs currently published are [...] Read more.
Background: Clinical diagnosis of Alzheimer’s disease (AD) increasingly incorporates CSF biomarkers. However, due to the intrinsic variability of the immunodetection techniques used to measure these biomarkers, establishing in-house cutoffs defining the positivity/negativity of CSF biomarkers is recommended. However, the cutoffs currently published are usually reported by using cross-sectional datasets, not providing evidence about its intrinsic prognostic value when applied to real-world memory clinic cases. Methods: We quantified CSF Aβ1-42, Aβ1-40, t-Tau, and p181Tau with standard INNOTEST® ELISA and Lumipulse G® chemiluminescence enzyme immunoassay (CLEIA) performed on the automated Lumipulse G600II. Determination of cutoffs included patients clinically diagnosed with probable Alzheimer’s disease (AD, n = 37) and subjective cognitive decline subjects (SCD, n = 45), cognitively stable for 3 years and with no evidence of brain amyloidosis in 18F-Florbetaben-labeled positron emission tomography (FBB-PET). To compare both methods, a subset of samples for Aβ1-42 (n = 519), t-Tau (n = 399), p181Tau (n = 77), and Aβ1-40 (n = 44) was analyzed. Kappa agreement of single biomarkers and Aβ1-42/Aβ1-40 was evaluated in an independent group of mild cognitive impairment (MCI) and dementia patients (n = 68). Next, established cutoffs were applied to a large real-world cohort of MCI subjects with follow-up data available (n = 647). Results: Cutoff values of Aβ1-42 and t-Tau were higher for CLEIA than for ELISA and similar for p181Tau. Spearman coefficients ranged between 0.81 for Aβ1-40 and 0.96 for p181TAU. Passing–Bablok analysis showed a systematic and proportional difference for all biomarkers but only systematic for Aβ1-40. Bland–Altman analysis showed an average difference between methods in favor of CLEIA. Kappa agreement for single biomarkers was good but lower for the Aβ1-42/Aβ1-40 ratio. Using the calculated cutoffs, we were able to stratify MCI subjects into four AT(N) categories. Kaplan–Meier analyses of AT(N) categories demonstrated gradual and differential dementia conversion rates (p = 9.815−27). Multivariate Cox proportional hazard models corroborated these findings, demonstrating that the proposed AT(N) classifier has prognostic value. AT(N) categories are only modestly influenced by other known factors associated with disease progression. Conclusions: We established CLEIA and ELISA internal cutoffs to discriminate AD patients from amyloid-negative SCD individuals. The results obtained by both methods are not interchangeable but show good agreement. CLEIA is a good and faster alternative to manual ELISA for providing AT(N) classification of our patients. AT(N) categories have an impact on disease progression. AT(N) classifiers increase the certainty of the MCI prognosis, which can be instrumental in managing real-world MCI subjects. Full article
(This article belongs to the Special Issue Biomarkers in Common and Rare Neurological Disorders)
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Review

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26 pages, 1240 KiB  
Review
The Roles of Imaging Biomarkers in the Management of Chronic Neuropathic Pain
by Cosmin Vasilica Pricope, Bogdan Ionel Tamba, Gabriela Dumitrita Stanciu, Magdalena Cuciureanu, Anca Narcisa Neagu, Ioana Creanga-Murariu, Bogdan-Ionut Dobrovat, Cristina Mariana Uritu, Silviu Iulian Filipiuc, Bianca-Mariana Pricope and Teodora Alexa-Stratulat
Int. J. Mol. Sci. 2022, 23(21), 13038; https://doi.org/10.3390/ijms232113038 - 27 Oct 2022
Cited by 2 | Viewed by 4535
Abstract
Chronic neuropathic pain (CNP) affects around 10% of the general population and has a significant social, emotional, and economic impact. Current diagnosis techniques rely mainly on patient-reported outcomes and symptoms, which leads to significant diagnostic heterogeneity and subsequent challenges in management and assessment [...] Read more.
Chronic neuropathic pain (CNP) affects around 10% of the general population and has a significant social, emotional, and economic impact. Current diagnosis techniques rely mainly on patient-reported outcomes and symptoms, which leads to significant diagnostic heterogeneity and subsequent challenges in management and assessment of outcomes. As such, it is necessary to review the approach to a pathology that occurs so frequently, with such burdensome and complex implications. Recent research has shown that imaging methods can detect subtle neuroplastic changes in the central and peripheral nervous system, which can be correlated with neuropathic symptoms and may serve as potential markers. The aim of this paper is to review available imaging methods used for diagnosing and assessing therapeutic efficacy in CNP for both the preclinical and clinical setting. Of course, further research is required to standardize and improve detection accuracy, but available data indicate that imaging is a valuable tool that can impact the management of CNP. Full article
(This article belongs to the Special Issue Biomarkers in Common and Rare Neurological Disorders)
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16 pages, 1210 KiB  
Review
TLR4-Pathway-Associated Biomarkers in Subarachnoid Hemorrhage (SAH): Potential Targets for Future Anti-Inflammatory Therapies
by Rebecca Heinz and Ulf C. Schneider
Int. J. Mol. Sci. 2022, 23(20), 12618; https://doi.org/10.3390/ijms232012618 - 20 Oct 2022
Cited by 10 | Viewed by 3547
Abstract
Subarachnoid hemorrhage is associated with severe neurological deficits for survivors. Among survivors of the initial bleeding, secondary brain injury leads to additional brain damage. Apart from cerebral vasospasm, secondary brain injury mainly results from cerebral inflammation taking place in the brain parenchyma after [...] Read more.
Subarachnoid hemorrhage is associated with severe neurological deficits for survivors. Among survivors of the initial bleeding, secondary brain injury leads to additional brain damage. Apart from cerebral vasospasm, secondary brain injury mainly results from cerebral inflammation taking place in the brain parenchyma after bleeding. The brain’s innate immune system is activated, which leads to disturbances in brain homeostasis, cleavage of inflammatory cytokines and, subsequently, neuronal cell death. The toll-like receptor (TLR)4 signaling pathway has been found to play an essential role in the pathophysiology of acute brain injuries such as subarachnoid hemorrhage (SAH). TLR4 is expressed on the cell surface of microglia, which are key players in the cellular immune responses of the brain. The participants in the signaling pathway, such as TLR4-pathway-like ligands, the receptor itself, and inflammatory cytokines, can act as biomarkers, serving as clues regarding the inflammatory status after SAH. Moreover, protein complexes such as the NLRP3 inflammasome or receptors such as TREM1 frame the TLR4 pathway and are indicative of inflammation. In this review, we focus on the activity of the TLR4 pathway and its contributors, which can act as biomarkers of neuroinflammation or even offer potential new treatment targets for secondary neuronal cell death after SAH. Full article
(This article belongs to the Special Issue Biomarkers in Common and Rare Neurological Disorders)
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17 pages, 2255 KiB  
Review
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?
by Elisabetta Tabolacci, Veronica Nobile, Cecilia Pucci and Pietro Chiurazzi
Int. J. Mol. Sci. 2022, 23(10), 5425; https://doi.org/10.3390/ijms23105425 - 12 May 2022
Cited by 11 | Viewed by 3940
Abstract
A dynamic mutation in exon 1 of the FMR1 gene causes Fragile X-related Disorders (FXDs), due to the expansion of an unstable CGG repeat sequence. Based on the CGG sequence size, two types of FMR1 alleles are possible: “premutation” (PM, with 56-200 CGGs) [...] Read more.
A dynamic mutation in exon 1 of the FMR1 gene causes Fragile X-related Disorders (FXDs), due to the expansion of an unstable CGG repeat sequence. Based on the CGG sequence size, two types of FMR1 alleles are possible: “premutation” (PM, with 56-200 CGGs) and “full mutation” (FM, with >200 triplets). Premutated females are at risk of transmitting a FM allele that, when methylated, epigenetically silences FMR1 and causes Fragile X syndrome (FXS), a very common form of inherited intellectual disability (ID). Expansions events of the CGG sequence are predominant over contractions and are responsible for meiotic and mitotic instability. The CGG repeat usually includes one or more AGG interspersed triplets that influence allele stability and the risk of transmitting FM to children through maternal meiosis. A unique mechanism responsible for repeat instability has not been identified, but several processes are under investigations using cellular and animal models. The formation of unusual secondary DNA structures at the expanded repeats are likely to occur and contribute to the CGG expansion. This review will focus on the current knowledge about CGG repeat instability addressing the CGG sequence expands. Full article
(This article belongs to the Special Issue Biomarkers in Common and Rare Neurological Disorders)
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