Amyotrophic Lateral Sclerosis: Pathophysiology, Diagnosis and Treatment

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neuromuscular and Movement Disorders".

Deadline for manuscript submissions: closed (16 November 2023) | Viewed by 1652

Special Issue Editors


E-Mail Website
Guest Editor
Institute of Physiology, Institute of Molecular Medicine, Egas Moniz Study Center, Faculty of Medicine, University of Lisbon, 1648-028 Lisbon, Portugal
Interests: neurodegenerative disorders; biomarkers; amyotrophic lateral sclerosis; immune system

E-Mail Website
Guest Editor
Institute of Physiology, Institute of Molecular Medicine, Egas Moniz Study Center, Faculty of Medicine, University of Lisbon, 1648-028 Lisbon, Portugal
Interests: amyotrophic lateral sclerosis; neurophysiology; diagnosis

Special Issue Information

Dear Colleagues,

Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressive and fatal neurodegenerative disease characterized by the rapid destruction of motor neurons in the motor cortex, brain stem, and spinal cord, associated with a neuroinflammatory process whose etiopathogenic role is not yet well understood.

Respiratory failure is the leading cause of death, which usually occurs 3–5 years after the onset of the first symptoms. The diagnostic delay is typically 9–12 months, mainly due to the absence of diagnostic molecular biomarkers.

Currently, no effective treatment is available despite a huge international effort in hundreds of very expensive clinical trials to find a new drug. The pathophysiological mechanisms involved in the selective degeneration of motor neurons in ALS are complex, multifactorial, and not yet fully understood.

Since the clinical course is highly variable, it is possible that several factors contribute to the disease process. Many cellular and molecular processes have been implicated; including mitochondrial dysfunction, disturbance of axonal transport, toxic protein aggregation, inefficient protein degradation (involving the proteasome or autophagy, or both), prion dissemination, excitotoxicity, decreased neurotrophic support from non-neuronal cells, oxidative stress, hypermetabolism, inflammation, defects in RNA metabolism, and RNA toxicity.

The scope of this special issue is to collect recent advances on the ALS pathophysiology, biomarkers, diagnostic processes, and emerging therapeutic pathways.

 We invite you to contribute with manuscript submissions related to molecular mechanisms, novel biomarkers for clinical trials stratification or outcome, diagnosis, and potential treatment targets or mechanisms.

Dr. Ana Catarina Pronto-Laborinho
Prof. Dr. Mamede De Carvalho
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. Brain Sciences 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 2200 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
  • disease mechanisms
  • diagnosis
  • motor neuron degeneration
  • pathophysiology
  • biomarkers
  • therapeutic targets

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Research

12 pages, 818 KiB  
Article
Calculated Maximal Volume Ventilation (cMVV) as a Marker of Early Respiratory Failure in Amyotrophic Lateral Sclerosis (ALS)
by Umberto Manera, Maria Claudia Torrieri, Cristina Moglia, Antonio Canosa, Rosario Vasta, Francesca Palumbo, Enrico Matteoni, Sara Cabras, Maurizio Grassano, Alessandro Bombaci, Alessio Mattei, Michela Bellocchia, Giuseppe Tabbia, Fulvia Ribolla, Adriano Chiò and Andrea Calvo
Brain Sci. 2024, 14(2), 157; https://doi.org/10.3390/brainsci14020157 - 3 Feb 2024
Viewed by 1149
Abstract
Respiratory failure assessment is among the most debatable research topics in amyotrophic lateral sclerosis (ALS) clinical research due to the wide heterogeneity of its presentation. Among the different pulmonary function tests (PFTs), maximal voluntary ventilation (MVV) has shown potential utility as a diagnostic [...] Read more.
Respiratory failure assessment is among the most debatable research topics in amyotrophic lateral sclerosis (ALS) clinical research due to the wide heterogeneity of its presentation. Among the different pulmonary function tests (PFTs), maximal voluntary ventilation (MVV) has shown potential utility as a diagnostic and monitoring marker, able to capture early respiratory modification in neuromuscular disorders. In the present study, we explored calculated MVV (cMVV) as a prognostic biomarker in a center-based, retrospective ALS population belonging to the Piemonte and Valle d’Aosta registry for ALS (PARALS). A Spearman’s correlation analysis with clinical data and PFTs showed a good correlation of cMVV with forced vital capacity (FVC) and a moderate correlation with some other features such as bulbar involvement, ALSFRS-R total score, blood oxygen (pO2), carbonate (HCO3), and base excess (BE), measured with arterial blood gas analysis. Both the Cox proportional hazard models for survival and the time to non-invasive ventilation (NIV) measurement highlighted that cMVV at diagnosis (considering cMVV(40) ≥ 80) is able to stratify patients across different risk levels for death/tracheostomy and NIV indication, especially considering patients with FVC% ≥ 80. In conclusion, cMVV is a useful marker of early respiratory failure in ALS, and is easily derivable from standard PFTs, especially in asymptomatic ALS patients with normal FVC measures. Full article
Show Figures

Figure 1

Back to TopTop