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Research Updates on Amyotrophic Lateral Sclerosis

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A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: closed (25 August 2023) | Viewed by 13268

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Special Issue Editor

Dr. Pilar Maria Ferraro

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Guest Editor

Department of Neurology, IRCCS Ospedale Policlinico San Martino, 16132 Genova, GE, Italy
Interests: motor neuron diseases; amyotrophic lateral sclerosis; magnetic resonance imaging; neuropsychology; genetics

Special Issue Information

Dear Colleagues,

We are delighted to announce a call for submissions to a Special Issue of Life on the topic “Research Updates on Amyotrophic Lateral Sclerosis”.

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive deterioration of upper and lower motor neurons accompanied, in up to 50% of cases, by various degrees of cognitive and/or behavioral impairment.

By gathering a collection of high-quality review and primary research articles, this Special Issue aims at summarizing the most recent advances in ALS research and at ameliorating the current knowledge on the clinical and biological aspects of this complex disease spectrum.

The suggested potential topics include but are not restricted to the followings: a) epidemiological and clinical features; b) genetic signatures; c) neuroanatomical correlates of clinical manifestations.

Papers providing new insights into disease spreading mechanisms and pathological pathways are welcome.

Finally, we strongly encourage contributions applying detailed clinical assessments to explore longitudinal trajectories of disease progression.

Dr. Pilar Maria Ferraro
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. Life 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
epidemiology
genetics
imaging
neurodegeneration
clinical features
disease spread
neuropathology
disease progression
pathological pathways

Published Papers (4 papers)

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Research

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12 pages, 1452 KiB

Open AccessArticle

Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS

by Gavin McCluskey, Karen E. Morrison, Colette Donaghy, John McConville, Mark O. McCarron, Ferghal McVerry, William Duddy and Stephanie Duguez

Life 2023, 13(6), 1301; https://doi.org/10.3390/life13061301 - 31 May 2023

Cited by 2 | Viewed by 1831

Abstract

Neurofilament levels are elevated in many neurodegenerative diseases and have shown promise as diagnostic and prognostic biomarkers in Amyotrophic Lateral Sclerosis (ALS), the most common form of Motor Neuron Disease (MND). This study assesses serum neurofilament light (NFL) and neurofilament heavy (NFH) chain concentrations in patients with ALS, other variants of motor neuron disease such as Progressive Muscular Atrophy (PMA) and Primary Lateral Sclerosis (PLS), and a range of other neurological diseases. It aims to evaluate the use of NFL and NFH to differentiate these conditions and for the prognosis of MND disease progression. NFL and NFH levels were quantified using electrochemiluminescence immunoassays (ECLIA). Both were elevated in 47 patients with MND compared to 34 patients with other neurological diseases and 33 healthy controls. NFL was able to differentiate patients with MND from the other groups with a Receiver Operating Characteristic (ROC) curve area under the curve (AUC) of 0.90 (p < 0.001). NFL correlated with the rate of disease progression in MND (rho 0.758, p < 0.001) and with the ALS Functional Rating Scale (rho −0.335, p = 0.021). NFL levels were higher in patients with ALS compared to both PMA (p = 0.032) and PLS (p = 0.012) and were able to distinguish ALS from both PMA and PLS with a ROC curve AUC of 0.767 (p = 0.005). These findings support the use of serum NFL to help diagnose and differentiate types of MND, in addition to providing prognostic information to patients and their families. Full article

(This article belongs to the Special Issue Research Updates on Amyotrophic Lateral Sclerosis)

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18 pages, 1954 KiB

Open AccessArticle

Hippocampal Metabolic Alterations in Amyotrophic Lateral Sclerosis: A Magnetic Resonance Spectroscopy Study

by Foteini Christidi, Georgios D. Argyropoulos, Efstratios Karavasilis, Georgios Velonakis, Vasiliki Zouvelou, Panagiotis Kourtesis, Varvara Pantoleon, Ee Ling Tan, Ariadne Daponte, Stavroula Aristeidou, Sofia Xirou, Panagiotis Ferentinos, Ioannis Evdokimidis, Michail Rentzos, Ioannis Seimenis and Peter Bede

Life 2023, 13(2), 571; https://doi.org/10.3390/life13020571 - 17 Feb 2023

Cited by 12 | Viewed by 3518

Abstract

Background: Magnetic resonance spectroscopy (MRS) in amyotrophic lateral sclerosis (ALS) has been overwhelmingly applied to motor regions to date and our understanding of frontotemporal metabolic signatures is relatively limited. The association between metabolic alterations and cognitive performance in also poorly characterised. Material and Methods: In a multimodal, prospective pilot study, the structural, metabolic, and diffusivity profile of the hippocampus was systematically evaluated in patients with ALS. Patients underwent careful clinical and neurocognitive assessments. All patients were non-demented and exhibited normal memory performance. 1H-MRS spectra of the right and left hippocampi were acquired at 3.0T to determine the concentration of a panel of metabolites. The imaging protocol also included high-resolution T1-weighted structural imaging for subsequent hippocampal grey matter (GM) analyses and diffusion tensor imaging (DTI) for the tractographic evaluation of the integrity of the hippocampal perforant pathway zone (PPZ). Results: ALS patients exhibited higher hippocampal tNAA, tNAA/tCr and tCho bilaterally, despite the absence of volumetric and PPZ diffusivity differences between the two groups. Furthermore, superior memory performance was associated with higher hippocampal tNAA/tCr bilaterally. Both longer symptom duration and greater functional disability correlated with higher tCho levels. Conclusion: Hippocampal 1H-MRS may not only contribute to a better academic understanding of extra-motor disease burden in ALS, but given its sensitive correlations with validated clinical metrics, it may serve as practical biomarker for future clinical and clinical trial applications. Neuroimaging protocols in ALS should incorporate MRS in addition to standard structural, functional, and diffusion sequences. Full article

(This article belongs to the Special Issue Research Updates on Amyotrophic Lateral Sclerosis)

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Review

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23 pages, 1415 KiB

Open AccessReview

Involvement of Lipids in the Pathogenesis of Amyotrophic Lateral Sclerosis

by Alisa V. Alessenko, Uliana A. Gutner and Maria A. Shupik

Life 2023, 13(2), 510; https://doi.org/10.3390/life13020510 - 12 Feb 2023

Cited by 1 | Viewed by 3950

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive degeneration of upper and lower motor neurons. To study its underlying mechanisms, a variety of models are currently used at the cellular level and in animals with mutations in multiple ALS associated genes, including SOD1, C9ORF72, TDP-43, and FUS. Key mechanisms involved in the disease include excitotoxicity, oxidative stress, mitochondrial dysfunction, neuroinflammatory, and immune reactions. In addition, significant metabolism alterations of various lipids classes, including phospholipids, fatty acids, sphingolipids, and others have been increasingly recognized. Recently, the mechanisms of programmed cell death (apoptosis), which may be responsible for the degeneration of motor neurons observed in the disease, have been intensively studied. In this context, sphingolipids, which are the most important sources of secondary messengers transmitting signals for cell proliferation, differentiation, and apoptosis, are gaining increasing attention in the context of ALS pathogenesis given their role in the development of neuroinflammatory and immune responses. This review describes changes in lipids content and activity of enzymes involved in their metabolism in ALS, both summarizing current evidence from animal models and clinical studies and discussing the potential of new drugs among modulators of lipid metabolism enzymes. Full article

(This article belongs to the Special Issue Research Updates on Amyotrophic Lateral Sclerosis)

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20 pages, 1687 KiB

Open AccessReview

Extracellular Vesicles in Amyotrophic Lateral Sclerosis

by Gavin McCluskey, Karen E. Morrison, Colette Donaghy, Frederique Rene, William Duddy and Stephanie Duguez

Life 2023, 13(1), 121; https://doi.org/10.3390/life13010121 - 31 Dec 2022

Cited by 8 | Viewed by 3346

Abstract

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease and is the most common adult motor neuron disease. The disease pathogenesis is complex with the perturbation of multiple pathways proposed, including mitochondrial dysfunction, RNA processing, glutamate excitotoxicity, endoplasmic reticulum stress, protein homeostasis and endosomal transport/extracellular vesicle (EV) secretion. EVs are nanoscopic membrane-bound particles that are released from cells, involved in the intercellular communication of proteins, lipids and genetic material, and there is increasing evidence of their role in ALS. After discussing the biogenesis of EVs, we review their roles in the propagation of pathological proteins in ALS, such as TDP-43, SOD1 and FUS, and their contribution to disease pathology. We also discuss the ALS related genes which are involved in EV formation and vesicular trafficking, before considering the EV protein and RNA dysregulation found in ALS and how these have been investigated as potential biomarkers. Finally, we highlight the potential use of EVs as therapeutic agents in ALS, in particular EVs derived from mesenchymal stem cells and EVs as drug delivery vectors for potential treatment strategies. Full article

(This article belongs to the Special Issue Research Updates on Amyotrophic Lateral Sclerosis)

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