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Neuromuscular and Neurodegenerative Diseases: Towards Personalized Medicine, Therapeutics and Improved...
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Neuromuscular and Neurodegenerative Diseases: Towards Personalized Medicine, Therapeutics and Improved Mechanistic Understanding, 2nd Edition

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: closed (15 March 2024) | Viewed by 756

Special Issue Editors

Dr. Stephanie Duguez

E-Mail Website
Guest Editor
Faculty of Life and Health Sciences, School of Mecidine, Centre of Personalised Medicine, Ulster University, Coleraine, UK
Interests: neuromuscular disorders; motor neuron diseases; extracellular vesicles; mitochondrial biogenesis; muscle ageing; myoblasts; DNA methylation; Duchenne-Becker; amyotrophic lateral sclerosis (ALS); spino-bulbar muscular atrophy (SBMA); spinal muscular atrophy (SMA)
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Julie Dumonceaux

E-Mail Website
Guest Editor
NIHR Biomedical Research Centre, Great Ormond Street Institute of Child Health, Great Ormond Street Hospital NHS Trust, University College London, London WC1N 1EH, UK
Interests: neuromuscular disorders; therapeutics; adeno-associated-virus (AAV); muscle cell immortalization; iPS; animal model; facioscapulohumeral muscular dystrophy (FSHD); myotonic dystrophy; Duchenne-Becker- and limb girdle muscular dystrophy
Special Issues, Collections and Topics in MDPI journals
Dr. William Duddy

E-Mail Website
Guest Editor
Faculty of Life and Health Sciences, School of Mecidine, Centre of Personalised Medicine, Ulster University, Coleraine, UK
Interests: stratified medicine; neuromuscular disease; systems biology; integrative bioinformatics
Special Issues, Collections and Topics in MDPI journals
Dr. Gavin McCluskey

E-Mail Website
Guest Editor
1. Department of Neurology, Altnagelvin Hospital, Derry BT47 6SB UK
2. Department of Neurology, Royal Victoria Hospital, Belfast BT12 6BA, UK
Interests: amyotrophic lateral sclerosis; neuromuscular disease; biomarkers for MND; motor neurone disease

Special Issue Information

Dear Colleagues,

This Special Issue focuses on neuromuscular and neurodegenerative diseases in childhood and adult life (including muscular dystrophies, spinal muscular atrophies, myotonic syndromes, metabolic myopathies, myasthenia gravis, hereditary myopathies, metabolic and inflammatory myopathies, motor neuron diseases, dementia, Parkinsonism, Huntington disease etc).

Advancing research for neuromuscular and neurodegenerative diseases requires a coordinated effort between clinicians, scientists, patients and their families, and other stakeholders. This collaboration drives the collection of samples and the direction of clinical investigation, and combined with recent progress in terms of genetic and genomic analysis has enabled the research community to make real gains towards improvements in patient care, such as the identification of specific genetic factors that have a key role in pathogenesis. Indeed, genetic and genomic analyses not only allow the identification of monogenic and polygenic causes of heritable diseases, but can also identify modifiers that can influence the course and severity of a given disease.

The identification of different groups and subgroups of patients affected by a specific disease pushes the scientific community to move toward personalised/stratified therapeutic strategies. The recent development of multidisciplinary approaches such as multi-omics analysis, electrophysiological and neuroimaging measures, as well as cellular and animal models is having an important impact on medical advances for these types of disease.

Deciphering the cascade of mechanisms being affected in each subgroup improves our understanding of a given disease and helps us to identify biomarkers and therapeutic strategies.

This Special Issue is dedicated to recent research progress in neuromuscular and neurodegenerative diseases, with a focus on:

  • Biomarkers: diagnostic, prognostic, patient stratification, wet biomarkers (in body fluids), dry biomarkers (imaging, neuroimaging, electrophysiology);
  • Clinical indicators;
  • Mechanisms explaining or contributing to irreversible cell loss;
  • Therapeutic strategies.

Up-to-date original research papers, communications and reviews will be considered.

We look forward to your contributions to this Special Issue.

Dr. Stephanie Duguez
Prof. Dr. Julie Dumonceaux
Dr. William Duddy
Dr. Gavin McCluskey
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. Journal of Personalized Medicine 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

  • neuromuscular diseases
  • neurodegenerative diseases
  • functional genomics
  • gene therapies
  • molecular biology
  • patient stratification
  • therapeutic strategies
  • biomarkers
  • electrophysiological measures
  • neuroimaging

Published Papers (1 paper)

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Research

12 pages, 546 KiB  
Article
Identifying Progression-Specific Alzheimer’s Subtypes Using Multimodal Transformer
by Diego Machado Reyes, Hanqing Chao, Juergen Hahn, Li Shen, Pingkun Yan and for the Alzheimer’s Disease Neuroimaging Initiative
J. Pers. Med. 2024, 14(4), 421; https://0-doi-org.brum.beds.ac.uk/10.3390/jpm14040421 - 15 Apr 2024
Viewed by 583
Abstract
Alzheimer’s disease (AD) is the most prevalent neurodegenerative disease, yet its current treatments are limited to stopping disease progression. Moreover, the effectiveness of these treatments remains uncertain due to the heterogeneity of the disease. Therefore, it is essential to identify disease subtypes at [...] Read more.
Alzheimer’s disease (AD) is the most prevalent neurodegenerative disease, yet its current treatments are limited to stopping disease progression. Moreover, the effectiveness of these treatments remains uncertain due to the heterogeneity of the disease. Therefore, it is essential to identify disease subtypes at a very early stage. Current data-driven approaches can be used to classify subtypes during later stages of AD or related disorders, but making predictions in the asymptomatic or prodromal stage is challenging. Furthermore, the classifications of most existing models lack explainability, and these models rely solely on a single modality for assessment, limiting the scope of their analysis. Thus, we propose a multimodal framework that utilizes early-stage indicators, including imaging, genetics, and clinical assessments, to classify AD patients into progression-specific subtypes at an early stage. In our framework, we introduce a tri-modal co-attention mechanism (Tri-COAT) to explicitly capture cross-modal feature associations. Data from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) (slow progressing = 177, intermediate = 302, and fast = 15) were used to train and evaluate Tri-COAT using a 10-fold stratified cross-testing approach. Our proposed model outperforms baseline models and sheds light on essential associations across multimodal features supported by known biological mechanisms. The multimodal design behind Tri-COAT allows it to achieve the highest classification area under the receiver operating characteristic curve while simultaneously providing interpretability to the model predictions through the co-attention mechanism. Full article
(This article belongs to the Special Issue Neuromuscular and Neurodegenerative Diseases: Towards Personalized Medicine, Therapeutics and Improved Mechanistic Understanding, 2nd Edition)
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