Decoding Amyotrophic Lateral Sclerosis: From Pathophysiology and Diagnosis on the Road to Innovative Treatment

Dear Colleagues,

Amyotrophic lateral sclerosis (ALS) is an inexorable degenerative disease that impacts both the brain and the spinal cord, involving both motor and extra-motor pathways, as well as a spectrum of associated symptoms going from pure motor ALS to clinical presentations associated with fronto-temporal dementia (ALS/FTD). Currently, the only available treatments are Riluzole and, in certain countries, Edaravone.

However, the past decade has witnessed a surge in research effort, significantly augmenting our comprehension of both genetic and sporadic forms of the disease and leading to the development of different types of biomarkers of disease progression. Of note, several breakthroughs in understanding the pathology and underlying mechanisms of the disease, particularly in genetic C9Orf72- and SOD1-related ALS/FTD, have led to the development and testing of potential disease-modifying drugs. Concurrently, a multitude of investigational treatments are undergoing evaluation, aiming to decelerate or halt degeneration in its initial stages.

Central to this quest are studies targeting presymptomatic carriers of ALS/FTD-related mutations, aiming at shading light into the early phases of degeneration and fostering the exploration of potentially more efficacious therapeutic interventions. In tandem with these advancements, international collaborative efforts are ongoing to construct comprehensive repositories comprising genetic, biological, clinical and imaging data. The objective is to facilitate the seamless sharing of resources and insights, thereby enhancing our understanding of disease mechanisms and addressing pathophysiological questions, spanning both genetic and sporadic ALS/FTD. In parallel, a reflection on possible innovative clinical trial designs that should accelerate the inclusion rate and the possibility to test different therapeutic approaches on the same patients is ongoing.

The aim of this Special Issue is to collect and share with the scientific community recent advancements in different fields of research on ALS, from preclinical work to clinical analysis and therapeutic approaches.

Dr. Giorgia Querin
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. 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.

• ALS/FTD
• genetics
• presymptomatic carriers
• biomarkers
• digital biomarkers
• neuroimaging
• omics
• clinical trials
• innovative treatments
• metabolism
• neurophysiology