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Amyotrophic Lateral Sclerosis: From Molecular Basis to Therapies

Special Issue Editor


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Guest Editor
Cellular Models and Neuroepigenetics Unit—IRCCS Mondino Foundation, Pavia, Italy
Interests: neurodegenerative disorders; genetics; epigenetics; biomarker discovery; genome instability
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Amyotrophic Lateral Sclerosis (ALS) is one of the most common neurodegenerative diseases, characterized by progressive paralysis and death, usually due to respiratory failure. Despite significant advancements in understanding ALS pathomechanisms over the past decades, its exact cause remains unknown, and no effective treatment is currently available. As a result, ALS continues to be a major focus of scientific research.

This Special Issue aims to collect both original research and review articles exploring innovative pathomechanisms and potential therapeutic targets, such as:

(1) Novel candidate genes and gene-specific therapeutic approaches

(2) Epigenetic mechanisms in ALS pathogenesis

(3) Innovative disease models for ALS research

(4) Neuroinflammatory and immune system contributions to ALS progression

(5) Mitochondrial dysfunction and oxidative stress as key pathogenic factors

We welcome contributions that offer new insights into these topics, helping to advance our understanding of ALS and uncover potential therapeutic strategies.

Dr. Matteo Bordoni
Guest Editor

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Keywords

  • ALS
  • pathomechanisms
  • genetics
  • epigenetics
  • disease models
  • neuroinflammation
  • mithocondria
  • oxidative stress

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Published Papers (1 paper)

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Review

69 pages, 1871 KiB  
Review
The Differential Effects of Genetic Mutations in ALS and FTD Genes on Behavioural and Cognitive Changes: A Systematic Review and Meta-Analysis
by Ana Maria Jiménez-García, Maria Eduarda Tortorella, Agnes Lumi Nishimura and Natalia Arias
Int. J. Mol. Sci. 2025, 26(13), 6199; https://doi.org/10.3390/ijms26136199 (registering DOI) - 27 Jun 2025
Abstract
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are linked by shared genetic mutations and overlapping clinical features, forming a clinical spectrum. This systematic review and meta-analysis analysed 97 studies, including 3212 patients with key ALS/FTD gene mutations, to identify gene-specific behavioural profiles. [...] Read more.
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are linked by shared genetic mutations and overlapping clinical features, forming a clinical spectrum. This systematic review and meta-analysis analysed 97 studies, including 3212 patients with key ALS/FTD gene mutations, to identify gene-specific behavioural profiles. Chromosome 9 open reading frame 72 (C9orf72) mutations were strongly associated with psychotic symptoms and aggression, while superoxide dismutase 1 (SOD1) mutations had minimal cognitive effects. Progranulin (PGRN) mutations correlated with apathy and hallucinations, microtubule-associated protein tau (MAPT) mutations with disinhibition, and charged multivesicular body protein 2B (CHMP2B) with social impairments. Fused in sarcoma (FUS) mutations caused early sleep disturbances, TANK-binding kinase 1 (TBK1) led to disinhibition, and presenilin 1 and 2 (PSEN1/2) was linked to severe aggression. Prodromal cognitive changes in PGRN, MAPT, and CHMP2B mutations suggested early disease onset. Despite overlapping symptoms and clinical heterogeneity, understanding gene-specific patterns could inform tailored care strategies to enhance the quality of life for ALS and FTD patients. This study calls for refined guidelines integrating genetic behavioural profiles to improve patient and family support. Full article
(This article belongs to the Special Issue Amyotrophic Lateral Sclerosis: From Molecular Basis to Therapies)
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