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Special Issue "Editorial Board Members’ Collection Series: “Amyotrophic Lateral Sclerosis: The Present and the Future of the Research”"

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Neurologic Disease".

Deadline for manuscript submissions: 31 October 2023 | Viewed by 4787

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Special Issue Editors

Prof. Dr. Letizia Mazzini

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Guest Editor

ALS Center Department of Neurology “Maggiore della Carità” Hospital and University of Piemonte Orientale, 28100 Novara, Italy
Interests: amyotrophic lateral sclerosis; neurodegeneration; genetics; clinical trials; stem cells

Dr. Tommaso Bocci

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Guest Editor

Department of Health Science, University of Milan, 20122 Milano, Italy
Interests: neurophysiology; electrophysiology; neurodegeneration; neurology; EEG; cognitive neuroscience; neuroscience neuroimaging; physiology; cell biology

Special Issue Information

Dear Colleagues,

This Special Issue gathers a team of experts, both clinicians and basic scientists, to provide a comprehensive update of Amyotrophic Lateral Sclerosis (ALS). ALS is a fatal and uncurable neurodegenerative disease that targets motor neurons, leading to the complete paralysis of all voluntary muscles and death due to respiratory failure within 2-5 years from the onset.

Research in this field has greatly advanced in the last few decades. In this Special Issue, the authors present recent results that offer new insights into various perspectives of the disease from genetic and pathogenetic findings toward diagnosis and prognostic and diagnostic Biomarkers. Moreover, a dedicated session will focus on new insights into the development of advanced therapies for personalized treatments to cure or prevent this devastating disease.

Prof. Dr. Letizia Mazzini
Dr. Tommaso Bocci
Guest Editors

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. Biomedicines is an international peer-reviewed open access monthly 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

amyotrophic lateral sclerosis
animal models
genetics
pathogenesis
diagnosis
clinical trials
personalized medicine

Published Papers (4 papers)

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A Clinical Scale for Rating the Severity of Bulbar Lower Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis

and

Biomedicines 2023, 11(7), 2039; https://doi.org/10.3390/biomedicines11072039 - 20 Jul 2023

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Abstract

Background: Amyotrophic lateral sclerosis (ALS) is characterized by the progressive loss of upper (UMN) and lower motor neurons (LMN) in four different body regions (bulbar, cervical, thoracic, and lumbosacral). Over the past decades, several clinical scoring systems have been developed to assess the UMN and LMN burden in ALS. However, concerning the bulbar LMN burden, the available scoring systems solely assess the presence/absence of bulbar LMN signs without providing a degree of impairment. Therefore, in this study, we proposed a novel scale to stratify subjects with ALS according to the bulbar LMN involvement and assessed its prognostic value. Methods: We developed a four-item scale based on the LMN signs according to the El Escorial criteria. Ten raters, specializing in ALS or neurocognitive disorders, retrospectively applied the scale to the first evaluation of 195 patients with ALS. Cohen’s kappa (Cohen’s k) and an intra-class correlation coefficient (ICC) were used to assess the inter-rater reliability. The Kaplan–Mayer estimator was used to estimate survival distribution according to the bulbar scale scores. Results: The raters showed a substantial to excellent agreement with Cohen’s k, ranging from 0.834 to 0.975, with an overall ICC of 0.922 (95% CI = 0.906–0.936). The survival distribution was statistically different across the three bulbar scale scores (χ²₍₂₎ = 9.50, p < 0.01). Conclusions: Our bulbar LMN scale represents a reliable measure of the bulbar LMN signs in ALS. This easy-to-administer clinical scale could provide unique information in phenotyping and predicting survival in ALS. Full article

(This article belongs to the Special Issue Editorial Board Members’ Collection Series: “Amyotrophic Lateral Sclerosis: The Present and the Future of the Research”)

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Open AccessArticle

Mendelian Randomization Analysis Reveals Statins Potentially Increase Amyotrophic Lateral Sclerosis Risk Independent of Peripheral Cholesterol-Lowering Effects

and

Biomedicines 2023, 11(5), 1359; https://doi.org/10.3390/biomedicines11051359 - 04 May 2023

Cited by 1 | Viewed by 1323

Abstract

Background: Observational studies suggest that statins may affect amyotrophic lateral sclerosis (ALS). However, they are limited by confounding and reverse causality biases. Therefore, we aimed to investigate the potential causal associations between statins and ALS using a mendelian randomization (MR) approach. Methods: Two-sample MR and drug-target MR were performed. Exposure sources included GWAS summary statistics of statin use, low-density-lipoprotein cholesterol (LDL-C), HMGCR-mediated LDL-C and LDL-C response to statins. Results: Genetic predisposition to statin medication was associated with increased ALS risk (OR = 1.085, 95% CI = 1.025–1.148, p = 0.005). After removing SNPs significantly associated with statin use from the instrumental variables (IVs), LDL-C-related higher ALS risk was absent (before removing: OR = 1.075, 95% CI = 1.013–1.141, p = 0.017; after removing: OR = 1.036, 95% CI = 0.949–1.131, p = 0.432). HMGCR-mediated LDL-C (OR = 1.033, 95% CI = 0.823–1.296, p = 0.779) and blood LDL-C response to statins (OR = 0.998, 95% CI = 0.991–1.005, p = 0.538) had no association with ALS. Conclusions: Here, we show that statins may be a risky exposure that increases ALS risk independent of the lowering effect of LDL-C in peripheral circulation. This provides insights into ALS development and prevention. Full article

(This article belongs to the Special Issue Editorial Board Members’ Collection Series: “Amyotrophic Lateral Sclerosis: The Present and the Future of the Research”)

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Open AccessArticle

Discovery of Biomarkers for Amyotrophic Lateral Sclerosis from Human Cerebrospinal Fluid Using Mass-Spectrometry-Based Proteomics

Sungtaek Oh

Yura Jang

and

Chan Hyun Na

Biomedicines 2023, 11(5), 1250; https://doi.org/10.3390/biomedicines11051250 - 23 Apr 2023

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Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the loss of upper and lower motor neurons, which eventually may lead to death. Critical to the mission of developing effective therapies for ALS is the discovery of biomarkers that can illuminate mechanisms of neurodegeneration and have diagnostic, prognostic, or pharmacodynamic value. Here, we merged unbiased discovery-based approaches and targeted quantitative comparative analyses to identify proteins that are altered in cerebrospinal fluid (CSF) from patients with ALS. Mass spectrometry (MS)-based proteomic approaches employing tandem mass tag (TMT) quantification methods from 40 CSF samples comprising 20 patients with ALS and 20 healthy control (HC) individuals identified 53 proteins that are differential between the two groups after CSF fractionation. Notably, these proteins included both previously identified ones, validating our approach, and novel ones that have the potential for expanding biomarker repertoire. The identified proteins were subsequently examined using parallel reaction monitoring (PRM) MS methods on 61 unfractionated CSF samples comprising 30 patients with ALS and 31 HC individuals. Fifteen proteins (APOB, APP, CAMK2A, CHI3L1, CHIT1, CLSTN3, ERAP2, FSTL4, GPNMB, JCHAIN, L1CAM, NPTX2, SERPINA1, SERPINA3, and UCHL1) showed significant differences between ALS and the control. Taken together, this study identified multiple novel proteins that are altered in ALS, providing the foundation for developing new biomarkers for ALS. Full article

(This article belongs to the Special Issue Editorial Board Members’ Collection Series: “Amyotrophic Lateral Sclerosis: The Present and the Future of the Research”)

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Review

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Open AccessReview

Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder

Biomedicines 2023, 11(6), 1599; https://doi.org/10.3390/biomedicines11061599 - 31 May 2023

Cited by 2 | Viewed by 1174

Abstract

Proteinopathy and neuroinflammation are two main hallmarks of neurodegenerative diseases. They also represent rare common events in an exceptionally broad landscape of genetic, environmental, neuropathologic, and clinical heterogeneity present in patients. Here, we aim to recount the emerging trends in amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) spectrum disorder. Our review will predominantly focus on neuroinflammation and systemic immune imbalance in ALS and FTD, which have recently been highlighted as novel therapeutic targets. A common mechanism of most ALS and ~50% of FTD patients is dysregulation of TAR DNA-binding protein 43 (TDP-43), an RNA/DNA-binding protein, which becomes depleted from the nucleus and forms cytoplasmic aggregates in neurons and glia. This, in turn, via both gain and loss of function events, alters a variety of TDP-43-mediated cellular events. Experimental attempts to target TDP-43 aggregates or manipulate crosstalk in the context of inflammation will be discussed. Targeting inflammation, and the immune system in general, is of particular interest because of the high plasticity of immune cells compared to neurons. Full article

(This article belongs to the Special Issue Editorial Board Members’ Collection Series: “Amyotrophic Lateral Sclerosis: The Present and the Future of the Research”)

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Special Issue "Editorial Board Members’ Collection Series: “Amyotrophic Lateral Sclerosis: The Present and the Future of the Research”"

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