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New Molecular Progression of Movement Disorders
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New Molecular Progression of Movement Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 May 2026) | Viewed by 3453

Special Issue Editors

Prof. Dr. Michał Latalski

E-Mail Website
Guest Editor
Children’s Orthopaedics Department, Medical University of Lublin, 20-093 Lublin, Poland
Interests: scoliosis; paediatric orthopaedics; neuro-orthopaedics; growth factors
Special Issues, Collections and Topics in MDPI journals
Dr. Pilar Gomez-Garre

E-Mail
Guest Editor
1. Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, 41013 Sevilla, Spain
2. CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain
Interests: neurogenetics; movement disorders; molecular biomarkers; extracellular vesicles; metagenomics; transcriptomic; next-generation sequencing; genotype-phenotype correlations

Special Issue Information

Dear Colleagues,

Movement disorders are a debilitating group of conditions that affect millions of people worldwide. While current treatments can manage symptoms, the underlying molecular mechanisms remain elusive. This Special Issue of the International Journal of Molecular Sciences (IJMS), titled "New Molecular Progression of Movement Disorders", aims to shed light on these mechanisms and pave the way for novel therapeutic strategies.

We invite researchers to submit original and impactful studies that delve into the molecular underpinnings of movement disorders. This may include investigations into protein misfolding, neuroinflammation, mitochondrial dysfunction, or any other relevant pathway. We are particularly interested in studies that explore the following:

  • Novel molecular targets for therapeutic intervention;
  • Early diagnostic biomarkers for movement disorders;
  • The role of environmental and genetic factors in disease progression.

By bringing together cutting-edge research, this Special Issue aspires to be a valuable resource for neuroscientists, neurologists, and clinicians seeking a deeper understanding of movement disorders. We encourage submissions from both basic and translational researchers, with a focus on studies that bridge the gap between molecular mechanisms and clinical applications.

IJMS is a journal focused on molecular sciences. While we welcome submissions with clinical relevance, pure clinical studies without a strong molecular component will not be suitable for this Special Issue.

We look forward to receiving your impactful contributions and working together to unlock the secrets of movement disorders.

Prof. Dr. Michał Latalski
Dr. Pilar Gomez-Garre
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. 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

  • movement disorders
  • molecular mechanisms
  • neurodegenerative diseases
  • therapeutic targets
  • biomarkers
  • neuroinflammation
  • protein misfolding
  • mitochondrial dysfunction
  • environmental factors
  • genetic factors

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

Published Papers (3 papers)

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Review

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15 pages, 756 KB  
Review
PANDAS Syndrome: A Narrative Review of the Diagnostic Conundrum in Children with Acute Neuropsychiatric Symptoms
by Carlo Alberto Cesaroni, Giulia Pisanò, Susanna Rizzi, Agnese Pantani, Daniele Frattini and Carlo Fusco
Int. J. Mol. Sci. 2026, 27(10), 4612; https://doi.org/10.3390/ijms27104612 - 21 May 2026
Abstract
The hypothesis that Group A beta-haemolytic Streptococcus (GAS) triggers an autoimmune cascade targeting basal ganglia dopaminergic circuits—producing obsessive–compulsive disorder (OCD), tic disorders, or chorea depending on the receptor subtype involved—is biologically compelling and supported by emerging molecular evidence. Yet PANDAS has remained a [...] Read more.
The hypothesis that Group A beta-haemolytic Streptococcus (GAS) triggers an autoimmune cascade targeting basal ganglia dopaminergic circuits—producing obsessive–compulsive disorder (OCD), tic disorders, or chorea depending on the receptor subtype involved—is biologically compelling and supported by emerging molecular evidence. Yet PANDAS has remained a diagnostic conundrum since its original description in 1998, with ongoing uncertainty surrounding diagnostic criteria, the interpretation of streptococcal serology, and the distinction from primary neurodevelopmental disorders. This study aimed to review the diagnostic challenges of PANDAS, with focus on streptococcal serology interpretation, advances in dopamine receptor autoantibody biology, the genetic epidemiology of primary tic disorders, and the differential diagnosis of acute neuropsychiatric presentations in children. A structured narrative review was conducted using PubMed, MEDLINE, EMBASE, and the Cochrane Library for publications from 1998 to early 2025 addressing PANDAS, PANS, streptococcal antibodies, childhood movement disorders, autoimmune encephalitis, and the genetics of tic disorders. No currently available biomarker—including ASO, anti-DNase B, anti-basal-ganglia antibodies, or the Cunningham Panel—has demonstrated adequate individual-level diagnostic accuracy for PANDAS. Emerging molecular evidence identifies anti-D1R autoantibodies, acting via G protein-and beta-arrestin-mediated signalling, as candidate biomarkers for PANDAS/PANS neuropsychiatric phenotypes, and anti-D2R autoantibodies for Sydenham chorea movement phenotypes; independent replication in unselected populations is required. Primary tic disorders carry heritability estimates of 50–80% and first-degree familial risk ratios of approximately 18-fold in large population-based cohorts. Prospective blinded studies have not demonstrated a consistent population-level association between GAS infections and tic or OCD exacerbations: PANDAS and PANS remain diagnoses of exclusion. The high background prevalence of both GAS exposure and primary neurodevelopmental disorders in overlapping paediatric age ranges creates conditions for incidental temporal co-occurrence. In the absence of validated molecular biomarkers, diagnostic imprecision carries direct clinical consequences: children may be exposed to treatments with significant risk profiles—including IVIG, plasma exchange, and prolonged antibiotic prophylaxis—while evidence-based therapies are delayed. A stepwise diagnostic approach incorporating the full differential diagnosis is both an epistemological and a patient safety imperative. Full article
(This article belongs to the Special Issue New Molecular Progression of Movement Disorders)
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18 pages, 647 KB  
Review
Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review
by Jan Lejman, Michał Pytlak, Anna Danielewicz, Erich Rutz, Michał Latalski and Monika Lejman
Int. J. Mol. Sci. 2026, 27(4), 1896; https://doi.org/10.3390/ijms27041896 - 16 Feb 2026
Viewed by 1067
Abstract
Muscle degeneration is the hallmark of muscular dystrophies—genetically heterogeneous disorders traditionally approached through the lens of molecular pathogenesis or symptomatic management in isolation. Here, we present a deliberately interdisciplinary synthesis that bridges molecular genetics, clinical phenotyping, and evidence-based orthopedic decision-making to address a [...] Read more.
Muscle degeneration is the hallmark of muscular dystrophies—genetically heterogeneous disorders traditionally approached through the lens of molecular pathogenesis or symptomatic management in isolation. Here, we present a deliberately interdisciplinary synthesis that bridges molecular genetics, clinical phenotyping, and evidence-based orthopedic decision-making to address a significant critical gap: the lack of genotype-informed, function-oriented frameworks for musculoskeletal complications. We re-evaluate disease entities—not only by their molecular etiology (e.g., DMD, LMNA, DUX4 dysregulation), but through the prism of orthopedic manifestations as diagnostic gateways and therapeutic milestones. For instance, early rigid spine in LMNA-related dystrophy is not merely a sign of contracture, but a red flag demanding cardiac risk stratification before surgical planning, in alignment with current consensus. Similarly, scoliosis management in Duchenne muscular dystrophy is discussed through quantitative decision thresholds (Cobb angle ≥ 20–30°, FVC ≥ 30–35%) derived from long-term outcome studies, rather than general clinical recommendations. Critically, we confront challenges posed by disease-modifying therapies: patients now survive into their 30s and 40s, yet develop novel, therapy-exacerbated orthopedic phenotypes (e.g., steroid-induced osteoporosis, atypical spinal rigidity). Therefore, we argue that precision orthopedics—tailored surveillance, genotype-stratified intervention timing (e.g., D4Z4 repeat-guided monitoring in FSHD, and realistic functional goal-setting (e.g., scapular arthrodesis for overhead function)—should become the gold standard of care. For example, desminopathies may show marked phenotypic variability even within the same mutation. Our review thus serves not only as a molecular overview, but as a practical roadmap for neurologists, geneticists, orthopedic surgeons, and rehabilitation specialists seeking to translate genomic insights into durable functional outcomes. Full article
(This article belongs to the Special Issue New Molecular Progression of Movement Disorders)
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Other

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9 pages, 1525 KB  
Case Report
A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report
by António Costa, Diogo Pereira, Maria João Malaquias, Ana Filipa Brandão, Jorge Oliveira and Marina Magalhães
Int. J. Mol. Sci. 2025, 26(2), 809; https://doi.org/10.3390/ijms26020809 - 19 Jan 2025
Viewed by 1842
Abstract
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a [...] Read more.
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders. Full article
(This article belongs to the Special Issue New Molecular Progression of Movement Disorders)
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