Neurodegenerative Diseases: Molecular Pathology and Personalized Treatment

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: 20 November 2025 | Viewed by 6946

Special Issue Editor


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Guest Editor
Experimental Neurology, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City 14389, Mexico
Interests: neurodegenerative diseases; neurodegeneration; neuroimaging; neurobiology and brain physiology; behavioural neuroscience
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Special Issue Information

Dear Colleagues,

Neurodegenerative diseases, including Alzheimer’s and Parkinson’s disease, amyotrophic lateral sclerosis, and frontotemporal dementia, pose a major challenge for healthcare systems worldwide. Despite significant advances in understanding their molecular pathology, effective disease-modifying treatments remain elusive. This Special Issue on Neurodegenerative Diseases: Molecular Pathology and Personalized Treatment aims to combine cutting-edge research exploring the molecular mechanisms underlying these disorders and innovative strategies for personalized therapeutic interventions.

We welcome contributions that examine neurodegenerative pathology at the genetic, epigenetic, and proteomic levels, including studies on protein misfolding, neuroinflammation, mitochondrial dysfunction, and synaptic degeneration. Research employing advanced methodologies such as single-cell transcriptomics, multi-omics approaches, neuroimaging, and electrophysiology is highly encouraged.

This issue will highlight translational research and precision medicine approaches, including biomarker discovery, individualized risk assessment, and targeted therapeutic strategies, such as gene therapy, RNA-based treatments, neuroprotective agents, and personalized neuromodulation techniques. Studies integrating computational modelling, artificial intelligence, and machine learning to refine patient stratification and treatment prediction are welcome.

Additionally, we seek investigations into disease heterogeneity, the role of sex and ageing in neurodegeneration, and novel clinical trial designs that address patient-specific responses to therapy. Contributions from interdisciplinary collaborations that bridge basic, translational, and clinical research are encouraged to provide a comprehensive understanding of disease mechanisms and the path toward more effective, individualized treatments.

By fostering dialogue between molecular neuroscientists, clinicians, and computational biologists, this Special Issue aims to drive forward the next generation of personalized interventions for neurodegenerative diseases.

We invite original research articles, reviews, and other types contributing to this evolving field.

Dr. Oscar Arias-Carrion
Guest Editor

Manuscript Submission Information

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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

  • neurodegeneration
  • molecular pathology
  • precision medicine
  • biomarkers
  • personalized therapeutics

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Published Papers (2 papers)

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Research

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12 pages, 865 KB  
Article
Genetic and Clinical Insights into ALS/FTD: Profiling a Rare Cohort to Explore Spectrum Heterogeneity
by Ana Marjanovic, Elka Stefanova, Vanja Viric, Aleksa Palibrk, Gorana Mandić Stojmenović, Tanja Stojković, Lenka Stojadinovic, Ivana Basta, Ivana Novakovic, Zorica Stević and Milena Jankovic
J. Pers. Med. 2025, 15(10), 451; https://doi.org/10.3390/jpm15100451 - 28 Sep 2025
Abstract
Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are recognized as a spectrum of neurodegenerative disorders with overlapping clinical, pathological, and genetic features. The identification of C9orf72 hexanucleotide repeat expansion as the most common genetic cause of both conditions has prompted [...] Read more.
Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are recognized as a spectrum of neurodegenerative disorders with overlapping clinical, pathological, and genetic features. The identification of C9orf72 hexanucleotide repeat expansion as the most common genetic cause of both conditions has prompted further investigation of genetic modifiers that may contribute to disease heterogeneity. We aimed to analyze the frequency of C9orf72 repeat expansions and potential modifying roles of APOE, ATXN1, and ATXN2 in Serbian ALS/FTD patients. Methods: Our study included an ALS/FTD cohort (n = 22) and healthy controls (n = 94). Repeat sizing in C9orf72, ATXN1 and ATXN2 was performed by fluorescent polymerase chain reaction (PCR) and capillary electrophoresis, while repeat-primed PCR was used to confirm C9orf72 expansions. APOE genotyping was conducted using real-time PCR assays targeting SNPs rs429358 and rs7412. Results: In the ALS/FTD cohort, 31.82% of the patients had heterozygous C9orf72 repeat expansion. The most common APOE genotype among patients was ε3/ε3 (72.73%). Intermediate-length ATXN1 alleles (32–44 repeats) were detected in 13.64% of patients and ATXN2 intermediate-length alleles (27–33 repeats) were found in 9% of patients. No significant differences were observed between ALS/FTD patients and controls in APOE ε4 frequency or intermediate ATXN1/ATXN2 repeats. Conclusions: Larger, population-specific studies and meta-analyses are needed to better understand the role of genetic modifiers in ALS/FTD pathogenesis and their influence on clinical heterogeneity. By integrating genetic and clinical data, this study represents a step toward the development of precision medicine strategies for ALS/FTD. Full article
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Review

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37 pages, 2066 KB  
Review
Redefining Non-Motor Symptoms in Parkinson’s Disease
by Laura Peña-Zelayeta, Karen M. Delgado-Minjares, Marcos M. Villegas-Rojas, Karen León-Arcia, Alberto Santiago-Balmaseda, Jesús Andrade-Guerrero, Isaac Pérez-Segura, Emmanuel Ortega-Robles, Luis O. Soto-Rojas and Oscar Arias-Carrión
J. Pers. Med. 2025, 15(5), 172; https://doi.org/10.3390/jpm15050172 - 26 Apr 2025
Cited by 3 | Viewed by 5835
Abstract
Parkinson’s disease involves widespread neurodegeneration that extends far beyond the basal ganglia, giving rise to a diverse range of non-motor symptoms that frequently emerge before motor onset. These include autonomic dysfunction, cognitive decline, neuropsychiatric disturbances, sleep-related disorders, and sensory deficits. Here, we synthesize [...] Read more.
Parkinson’s disease involves widespread neurodegeneration that extends far beyond the basal ganglia, giving rise to a diverse range of non-motor symptoms that frequently emerge before motor onset. These include autonomic dysfunction, cognitive decline, neuropsychiatric disturbances, sleep-related disorders, and sensory deficits. Here, we synthesize current evidence on the anatomical, neurochemical, and network-level mechanisms that drive these symptoms, and we examine how they shape disease progression and clinical heterogeneity. We highlight the limitations of dopamine-centric models and advocate for a framework that treats non-motor symptoms as the disorder’s primary, mechanistically distinct features. We also discuss how emerging technologies—such as multi-omic profiling, artificial intelligence, and network neuroscience—enable earlier identification, stratification of non-motor phenotypes, and the development of precision-based therapeutic strategies. Recognizing non-motor symptoms as central to Parkinson’s disease redefines how the disorder should be diagnosed, studied, and treated. Full article
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