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Movement Disorders: Current Diagnostics, Management and Future Perspectives

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: 25 December 2026 | Viewed by 478

Special Issue Editors


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Guest Editor
First Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece
Interests: neurosciences; clinical neurology; neuroimmunology; movement disorders
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Guest Editor
Department of Clinical Neurophysiology, School of Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece
Interests: movement disorders; Parkinson’s disease, neuromuscular disorders; myasthenia; polyneuropathies

Special Issue Information

Dear Colleagues,

Movement disorders, both hypokinetic and hyperkinetic, can be the manifestation of a wide spectrum of neurodegenerative, immune-mediated, neuroinflammatory, metabolic, systemic or genetic conditions. We are pleased to invite you to contribute to the Special Issue entitled "Movement Disorders: Current Diagnostics, Management and Future Perspectives".

This Special Issue aims to present the most recent advances in the diagnosis and management of movement disorders, including tremor, parkinsonism, dystonia, ataxia, chorea, myoclonus and tics, as these disorders significantly impact patients’ daily functioning and independence. The current diagnostic and management of movement disorders incorporates medical history and phenotypic data, physical examination, genetic information, biomarkers and wearable device recordings. Moreover, recent breakthroughs have been driven by technological advances in neuroimaging, neuromodulation, cell and gene therapy, digital biomarkers, deep learning and artificial intelligence, aiding the diagnosis and management of movement disorders. The integration of knowledge from the above-mentioned areas is paving the way for a more comprehensive, personalized approach to movement disorder management.

In this Special Issue, original research articles and reviews (including case-based reviews) are welcome. Topics of interest for publication may include (but are not limited to) the following: rare movement disorders, immune-mediated movement disorders, drug-induced movement disorders, non-motor symptoms, personalized genetic therapy, seed amplification assays, cell therapies and AI-driven diagnostics. We hope that this Special Issue will help clinicians recognize and treat common and uncommon movement disorders early, using evidence-based personalized medicine.

We look forward to receiving your contributions.

Dr. Stefania Kalampokini
Dr. Marianthi A. Arnaoutoglou
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 250 words) can be sent to the Editorial Office for assessment.

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 Clinical Medicine is an international peer-reviewed open access semimonthly 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

  • neuroimaging
  • neuromodulation
  • cell and gene therapy
  • digital biomarkers
  • deep learning
  • artificial intelligence
  • movement disorders
  • hypokinetic
  • hyperkinetic
  • immune-mediated movement disorders
  • neurodegenerative movement disorders

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Published Papers (1 paper)

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Research

11 pages, 238 KB  
Article
Clinical Phenotype Comparison in Polish Patient Cohorts with and Without Molecular Diagnosis of Dystonia
by Lukasz Milanowski, Marta Jurek, Anna Salińska, Aleksandra Podwysocka, Monika Figura, Stanisław Szlufik, Maciej Geremek, Julia Nowak, Krzysztof Szczałuba, Dorota Hoffman-Zacharska and Dariusz Koziorowski
J. Clin. Med. 2026, 15(10), 3975; https://doi.org/10.3390/jcm15103975 - 21 May 2026
Viewed by 293
Abstract
Background: Dystonia is a heterogeneous hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Although numerous genes associated with dystonia have been identified, the genetic background remains unknown in many patients. Data on genotype–phenotype correlations in [...] Read more.
Background: Dystonia is a heterogeneous hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Although numerous genes associated with dystonia have been identified, the genetic background remains unknown in many patients. Data on genotype–phenotype correlations in Polish populations remain limited. Objective: To analyze the clinical characteristics of patients with generalized dystonia and compare clinical features between individuals with and without genetically confirmed dystonia-causative variants in a Polish cohort. Methods: A retrospective analysis of patients diagnosed with generalized dystonia at a single neurological center was performed. Diagnosis was established according to MDS criteria. Genetic analysis included whole-exome sequencing, targeted NGS genetic panel, MLPA, Sanger sequencing and PCR_RFLP analysis. Clinical and demographic data were extracted from medical records. Clinical characteristics of individuals with and without causative variants were compared. Results: A total of 113 patients with generalized dystonia were included. Genetic variants were identified in 13 patients (11.5%). These included variants within the TOR1A, THAP1, SGCE, GCH1, NKX2-1, SLC2A1, KMT2B, PDHA1, MFN2, and GNAL genes. We found detailed clinical data of 46 patients included in the study. Our comparative analysis of patients with causative (n = 7) and without causative variants (n = 39) revealed no statistically significant differences in age of onset, initial symptom localization, treatment response, family history, or associated neurological features. Conclusions: In this cohort of Polish patients with generalized dystonia, we identified pathogenic variants in approximately 11.5% of cases. No significant clinical differences were observed between patients with genetically confirmed dystonia and those without identified variants. In this study, we report the first two Polish cases with DYT-GNAL variants. Further studies are required to reveal the clinical heterogeneity of dystonia and characterize dystonia subtypes. Full article
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