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Diagnostics
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Genetic Diagnosis of Rare Neurological Disorders: Advances, Challenges, and Clinical...
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Genetic Diagnosis of Rare Neurological Disorders: Advances, Challenges, and Clinical Impact

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 January 2026 | Viewed by 376

Special Issue Editor

Dr. Georgia Xiromerisiou

E-Mail Website
Guest Editor
Institute of Preventive Neurology and Brain Helath, Thessaloniki, Greece
Interests: neuodegenerative disorders; neurogenetics; movement disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, the diagnosis of rare neurological disorders has been revolutionized by advances in genetic testing and molecular research. What was once a diagnostic odyssey for many patients is now a process guided by powerful genomic tools, which help clinicians and researchers uncover the underlying causes of complex conditions.

This Special Issue, “Genetic Diagnosis of Rare Neurological Disorders: Advances, Challenges, and Clinical Impact”, brings together diverse perspectives on how genetic discoveries are reshaping the way we understand, diagnose, and manage rare neurological diseases. We welcome contributions that highlight new gene findings, cutting-edge diagnostic technologies, clinical case studies, and real-world challenges in implementing genetic testing in clinical practice.

We are especially interested in work that bridges the gap between research and patient care, from improved diagnostic accuracy to implications for treatment, counseling, and long-term management. Our goal is to create a Special Issue that reflects the collaborative nature of this field and inspires continued innovation in the service of patients and families living with rare neurological conditions.

Dr. Georgia Xiromerisiou
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. Diagnostics 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

  • rare neurological disorders
  • genetic diagnosis
  • neurogenetics
  • next-generation sequencing
  • genotype–phenotype correlation
  • molecular diagnostics
  • clinical impact
  • personalized medicine
  • translational research
  • undiagnosed diseases

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Published Papers (1 paper)

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17 pages, 1314 KB  
Case Report
Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis
by Stefania Kalampokini, Andreas Plaitakis, Cleanthe Spanaki and Georgia Xiromerisiou
Diagnostics 2025, 15(17), 2275; https://doi.org/10.3390/diagnostics15172275 - 8 Sep 2025
Viewed by 209
Abstract
Background: Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism, characterized by progressive iron accumulation. Neurological involvement, which can manifest with various symptoms, including movement disorders, is uncommon. Methods: We describe a case of a 50-year-old male patient homozygous for [...] Read more.
Background: Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism, characterized by progressive iron accumulation. Neurological involvement, which can manifest with various symptoms, including movement disorders, is uncommon. Methods: We describe a case of a 50-year-old male patient homozygous for the H63D variant of the HFE gene (encoding the human homeostatic iron regulator protein), who also carried the c.340+4T>C polymorphism in the same gene and has been affected since the age of 13 years by hemidystonia involving primarily his right upper extremity. His brain MRI, obtained approximately 35 years after initial symptoms, revealed iron deposition predominantly in the contralateral pallidum. The patient has shown no progression of his neurologic syndrome and no systemic manifestations over the 35 years of follow-up. Moreover, we conducted a comprehensive literature search in Pubmed and Web of Science in English of all previously reported cases of movement disorders due to HH. Results: We found 19 studies including 69 patients with movement disorders. Movement disorders associated with HH were, in most cases, hypokinetic and less commonly hyperkinetic. The most common movement disorders were tremor, parkinsonism, ataxia, and less frequent dystonia, chorea, and myoclonus. Movement disorders could either precede the diagnosis of HH, or they could occur with a variable latency ranging from a few months up to 12 years after disease onset. Iron deposition on brain MRI in the basal ganglia or cerebellum was found in few of those cases. Conclusions: The association between hemochromatosis and movement disorders is rare. Blood analysis, including serum iron, ferritin, and transferrin saturation levels, should be investigated in patients with movement disorders of unknown etiology or with iron deposition on neuroimaging. A better understanding of genotype-phenotype correlations would facilitate the early diagnosis of HH. Full article
(This article belongs to the Special Issue Genetic Diagnosis of Rare Neurological Disorders: Advances, Challenges, and Clinical Impact)
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