ijms-logo

Journal Browser

Journal Browser

Parkinson’s Disease and Related Diseases: Mechanisms, Genetic Factors and Treatments

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 30 July 2025 | Viewed by 879

Special Issue Editor


E-Mail Website
Guest Editor
1. Faculty of Medicine, School of Health Sciences, University of Ioannina, 451 10 Ioannina, Greece
2. Department of Medical Oncology, Ioannina University Hospital, 455 00 Ioannina, Greece
3. Faculty of Medicine, Health and Social Care, Canterbury Christ Church University, Canterbury CT1 1QU, UK
4. Faculty of Life Sciences & Medicine, School of Cancer & Pharmaceutical Sciences, King's College London, London SE1 9RT, UK
5. Medway NHS Foundation Trust, Windmill Road, Gillingham ME7 5NY, Kent, UK
6. AELIA Organization, 9th Km Thessaloniki—Thermi, 57001 Thessaloniki, Greece
Interests: prostate cancer; renal cancer; ovarian cancer; homologous recombination of DNA; PARP inhibitors; cervical cancer; carcinoma of unknown primary; colorectal cancer; cancer and autoimmune diseases; biomarkers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Parkinson’s disease (PD) and related neurodegenerative disorders pose a growing global health challenge, affecting millions with progressive motor and cognitive decline. Despite extensive research, the precise molecular mechanisms underlying PD remain elusive, with genetic and environmental interactions playing critical roles. Understanding the pathophysiology of PD—including emerging insights into α-synuclein aggregation, mitochondrial dysfunction, neuroinflammation, and novel genetic risk factors—is of paramount importance.

A pressing concern is the variability in disease progression and treatment response, highlighting the need for personalized therapeutic strategies. While current treatments offer symptom management, breakthroughs in gene therapy, neuroprotective agents, and precision medicine are reshaping the landscape. Additionally, the integration of machine learning and artificial intelligence in predicting disease onset, progression, and treatment outcomes holds transformative potential. We invite original research and comprehensive reviews that uncover novel molecular targets, refine diagnostic biomarkers, and advance AI-driven predictive models to revolutionize PD care and improve patient outcomes.

Guiding this exploration are Professor Stergios Boussios and Dr. David Olawade (University of East London), whose expertise is crucial in this Special Issue.

Prof. Dr. Stergios Boussios
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • Parkinson’s disease
  • neurodegenerative disorders
  • α-synuclein aggregation
  • neuroinflammation
  • gene therapy
  • biomarkers

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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

Research

Jump to: Review

10 pages, 599 KiB  
Article
Clinical and Genetic Characteristics of Parkinson’s Disease Patients with Substantia Nigra Hyperechogenicity
by Łukasz Milanowski, Piotr Szukało, Małgorzata Kowalska, Alicja Sikorska, Dorota Hoffman-Zacharska and Dariusz Koziorowski
Int. J. Mol. Sci. 2025, 26(12), 5492; https://doi.org/10.3390/ijms26125492 - 8 Jun 2025
Viewed by 346
Abstract
Hyperechogenicity of the substantia nigra (SN) is observed using transcranial ultrasonography in patients with Parkinson’s Disease. In this study, we investigated whether monogenic forms of PD are more prevalent in these patients and clinically defined their characteristics. Eighty-eight PD patients were part of [...] Read more.
Hyperechogenicity of the substantia nigra (SN) is observed using transcranial ultrasonography in patients with Parkinson’s Disease. In this study, we investigated whether monogenic forms of PD are more prevalent in these patients and clinically defined their characteristics. Eighty-eight PD patients were part of the analysis. All patients received clinical diagnoses from experienced movement disorder specialists. Each patient underwent transcranial ultrasonography and genetic testing for mutations in the SNCA, PRKN, LRRK2, DJ1, and PINK1 genes. SN hyperechogenicity was identified in 48 patients. Compared to the non-hyperechogenicity group, these patients did not have monogenic forms of PD more frequently, but they did have REM sleep behavior disorder significantly more often, lived in rural areas, and experienced a later age of disease onset. Our study indicated no association between substantia nigra echogenicity and the presence of mutations in the SNCA, LRRK2, DJ1, PRKN, and PINK1 genes. Hyperechogenicity of the substantia nigra, however, remains a common finding in patients with Parkinson’s Disease, correlating with certain features of the disease. Full article
Show Figures

Figure 1

Review

Jump to: Research

20 pages, 3802 KiB  
Review
Common SNCA Genetic Variants and Parkinson’s Disease Risk: A Systematic Review and Meta-Analysis
by Raziyeh Mohammadi, Mahdi Shirazi, Sayedeh Fatemeh Sadat-Madani, Matthew Zachary Yeo Cheng Long, Corrine Lee Singh, Jayne Y. Tan, Xiao Deng, Seyed Majid Hashemi Fard, Samuel Y. E. Ng, Adeline S. L. Ng, Louis C. S. Tan and Seyed Ehsan Saffari
Int. J. Mol. Sci. 2025, 26(13), 6001; https://doi.org/10.3390/ijms26136001 - 23 Jun 2025
Viewed by 235
Abstract
The SNCA gene, encoding alpha-synuclein, is implicated in the pathogenesis of Parkinson’s disease (PD), with several single-nucleotide polymorphisms (SNPs) linked to increased risk. This study systematically evaluated the association between common SNCA polymorphisms and PD through a meta-analysis of cohort and case–control studies [...] Read more.
The SNCA gene, encoding alpha-synuclein, is implicated in the pathogenesis of Parkinson’s disease (PD), with several single-nucleotide polymorphisms (SNPs) linked to increased risk. This study systematically evaluated the association between common SNCA polymorphisms and PD through a meta-analysis of cohort and case–control studies published before 20 November 2023. Eligible studies were identified via comprehensive searches of PubMed, Scopus, and Web of Science, and pooled odds ratios with 95% confidence intervals were calculated under allelic, dominant, and recessive models. Heterogeneity and publication bias were assessed, and subgroup and sensitivity analyses were performed. Twenty-seven studies were included. SNP rs11931074 showed consistent associations with PD across all models, with low heterogeneity and no evidence of publication bias. rs356219 and rs356165 were also significantly associated with PD, although regional differences contributed to heterogeneity. In contrast, rs2583988 showed marginal significance in the allelic model, which was lost after sensitivity analyses. No associations were found under dominant or recessive models for this SNP. These findings confirm rs11931074 as a robust PD risk variant and support the roles of rs356219 and rs356165 while suggesting weaker evidence for rs2583988. Large, multi-ethnic studies are warranted to elucidate underlying mechanisms and support precision medicine in PD. Full article
Show Figures

Figure 1

Back to TopTop