Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
8.1
4.9
Journals
IJMS
Special Issues
Rare Diseases and Neuroscience
ijms-logo
Submit to Special Issue Submit Abstract to Special Issue Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Rare Diseases and Neuroscience

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: 20 January 2025 | Viewed by 10283

Special Issue Editors

Dr. Michelangelo Mancuso

E-Mail Website
Guest Editor
Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, 56126 Pisa, Italy
Interests: mitochondria; mitochondrial disease
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Filippo Drago

E-Mail Website
Guest Editor
Department of Biomedical and Biotechnological Science, University of Catania, 95123 Catania, Italy
Interests: neuropharmacology; regulatory disciplines in rare diseases; pharmacogenetics

Special Issue Information

Dear Colleagues,

A rare disease (RD) is defined as one that affects fewer than five per 10,000 persons in the European Union (EU) or fewer than 200,000 persons in the United States. Despite their relative rarity, about 7000 RDs have been identified worldwide, affecting approximately 7% of the general population (approximately 30 million people in the EU). Rare neurological diseases (RNDs) constitute a significant proportion of RDs. Approximately 80% of RDs are caused by genetic anomalies, and over half of the cases affect the central and/or peripheral nervous system, either isolated or in combination with other systems, and may begin in childhood. These are all good reasons as to why young generations of scientists and physicians should be aware of RNDs. In the current Special Issue, we present the latest updates on the diagnosis, semeiology, and management of this vast array of conditions.

Dr. Michelangelo Mancuso
Prof. Dr. Filippo Drago
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. 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

  • neurogenetics
  • rare diseases
  • rare neurological diseases
  • cerebellar ataxia
  • rare movement disorders
  • mitochondrial diseases
  • innovative treatments in rare neurological diseases

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.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

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

Published Papers (6 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review, Other

14 pages, 1993 KiB  
Article
Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease
by César M. Cerecedo-Zapata, Yessica S. Tapia-Guerrero, José A. Ramírez-González, Aranza Meza-Dorantes, Karla N. Tercero-Pérez, Hernán Cortés, Araceli Guerra-Grajeda, Ilse H. Ortega-Ibarra, Gabriela Gatica-Ramos, Alfredo Poblete-Velazquez, Norberto Leyva-García, Luis Velázquez-Pérez, Bulmaro Cisneros and Jonathan J. Magaña
Int. J. Mol. Sci. 2024, 25(19), 10750; https://doi.org/10.3390/ijms251910750 - 6 Oct 2024
Viewed by 1477
Abstract
Spinocerebellar ataxia type 7 (SCA7) is a rare genetic disease characterized by progressive cerebellar syndrome and macular degeneration. In a previous study, we clinically and genetically characterized a group of Mexican patients, which represented one of the largest cohorts of SCA7 patients worldwide [...] Read more.
Spinocerebellar ataxia type 7 (SCA7) is a rare genetic disease characterized by progressive cerebellar syndrome and macular degeneration. In a previous study, we clinically and genetically characterized a group of Mexican patients, which represented one of the largest cohorts of SCA7 patients worldwide and demonstrated that all patients had a unique genetic origin. Our laboratory developed a program for the diagnosis, medical care, and long-term follow-up of these patients living in Veracruz State, and in this report, we present an update to this research, covering 2013 to 2024. So far, we identified 172 SCA7 carriers, with a few cases outside Veracruz, and our data support that the length of the CAG repeat tract mainly determines disease severity and life expectancy, and accordingly, we define three different phenotypes, early-onset (EO), classical-onset (CO), and late-onset (LO), with EO patients showing the lowest life expectancy. Furthermore, we found that parental transmission of mutant alleles leads to increased CAG repeat instability, compared to maternal ones. Interestingly, a haplotype analysis revealed that patients outside Veracruz may have different genetic origins. In conclusion, longitudinal observations of SCA7 patients provide insight into the natural history of SCA7 and help to design strategies for diagnosis, genetic counseling, physical rehabilitation, and therapeutic alternatives. Full article
(This article belongs to the Special Issue Rare Diseases and Neuroscience)
►▼ Show Figures

Figure 1

12 pages, 5992 KiB  
Article
Intratumoral Microbiome in Head and Neck Paragangliomas
by Maria Fedorova, Anastasiya Snezhkina, Dmitry Kalinin, Elena Pudova, Margarita Lantsova, George Krasnov, Vladislav Pavlov and Anna Kudryavtseva
Int. J. Mol. Sci. 2024, 25(17), 9180; https://doi.org/10.3390/ijms25179180 - 23 Aug 2024
Viewed by 587
Abstract
Head and neck paragangliomas (HNPGLs) are rare neoplasms arising from paraganglia of the parasympathetic nervous system. HNPGLs are characterized by high vascularity and are located in proximity to major vessels and nerves, which may be potential sources of microbial invasion in these tumors. [...] Read more.
Head and neck paragangliomas (HNPGLs) are rare neoplasms arising from paraganglia of the parasympathetic nervous system. HNPGLs are characterized by high vascularity and are located in proximity to major vessels and nerves, which may be potential sources of microbial invasion in these tumors. There have been no studies in the literature on the microbiota in HNPGLs. Investigation of the microbiome associated with paragangliomas is important for understanding tumor pathogenesis. In this study, we investigated the microbiome composition in two sets of HNPGLs. First, 29 fresh frozen (FF) tissues were subjected to 16S rRNA gene sequencing; concurrently, a panel of candidate laboratory-derived contaminants was investigated. Second, we analyzed microbial reads from whole transcriptome sequencing data obtained for 82 formalin-fixed paraffin-embedded (FFPE) HNPGLs. The bacterial diversity in FF tumors was found to be significantly lower than that observed in FFPE HNPGLs. Based on 16S rRNA gene sequencing, only seven bacterial families were identified as potential tumor inhabitants: Bryobacteraceae, Enterococcaceae, Neisseriaceae, Legionellaceae, Vibrionaceae, Obscuribacteraceae, and Mycobacteriaceae. However, RNA-Seq demonstrated higher sensitivity for identifying microbiome composition and revealed abundant bacterial families that partially correlated with those previously described in pheochromocytomas and extra-adrenal paragangliomas. No viruses were found in HNPGLs. In summary, our findings indicated the presence of a microbiome in HNPGLs, comprising a number of bacterial families that overlap with those observed in pheochromocytomas/paragangliomas and glioblastomas. Full article
(This article belongs to the Special Issue Rare Diseases and Neuroscience)
►▼ Show Figures

Figure 1

Review

Jump to: Research, Other

17 pages, 2098 KiB  
Review
Difficulties in the Diagnostics and Treatment of Hashimoto’s Encephalopathy—A Systematic and Critical Review
by Nikola Pempera, Miłosz Miedziaszczyk and Katarzyna Lacka
Int. J. Mol. Sci. 2024, 25(13), 7101; https://doi.org/10.3390/ijms25137101 - 28 Jun 2024
Viewed by 1898
Abstract
Hashimoto’s encephalopathy (HE) has been a poorly understood disease. It has been described in all age group, yet, there is no specific HE marker. Additionally, the treatment data in the available studies are frequently divergent and contradictory. Therefore, the aim of our systematic [...] Read more.
Hashimoto’s encephalopathy (HE) has been a poorly understood disease. It has been described in all age group, yet, there is no specific HE marker. Additionally, the treatment data in the available studies are frequently divergent and contradictory. Therefore, the aim of our systematic and critical review is to evaluate the diagnosis and treatment of HE in view of the latest findings. The databases browsed comprised PubMed, Scopus, and Google Scholar as well as Cochrane Library, and the search strategy included controlled vocabulary and keywords. A total of 2443 manuscripts were found, published since the beginning of HE research until February 2024. In order to determine validity of the data collected from studies, bias assessment was performed using RoB 2 tool. Ultimately, six studies were included in our study. HE should be considered in the differential diagnosis in patients with psychiatric and neurological symptoms. According to our findings, negative thyroid peroxidase antibodies (anti-TPOs) may represent a valuable parameter in ruling out HE. Nonetheless, this result cannot be used to confirm HE. Furthermore, the proposed anti NH2-terminal-α-enolase (anti-NAE) is non-specific for HE. The effectiveness of glucocorticoid therapy is 60.94%, although relapse occurs in 31.67% of patients following the treatment. Our review emphasizes the significance of conducting further large-scale research and the need to take into account the potential genetic factor. Full article
(This article belongs to the Special Issue Rare Diseases and Neuroscience)
►▼ Show Figures

Figure 1

16 pages, 1289 KiB  
Review
Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology
by Christiane M. Neuhofer and Holger Prokisch
Int. J. Mol. Sci. 2024, 25(9), 4602; https://doi.org/10.3390/ijms25094602 - 23 Apr 2024
Viewed by 1825
Abstract
Our understanding of rare disease genetics has been shaped by a monogenic disease model. While the traditional monogenic disease model has been successful in identifying numerous disease-associated genes and significantly enlarged our knowledge in the field of human genetics, it has limitations in [...] Read more.
Our understanding of rare disease genetics has been shaped by a monogenic disease model. While the traditional monogenic disease model has been successful in identifying numerous disease-associated genes and significantly enlarged our knowledge in the field of human genetics, it has limitations in explaining phenomena like phenotypic variability and reduced penetrance. Widening the perspective beyond Mendelian inheritance has the potential to enable a better understanding of disease complexity in rare disorders. Digenic inheritance is the simplest instance of a non-Mendelian disorder, characterized by the functional interplay of variants in two disease-contributing genes. Known digenic disease causes show a range of pathomechanisms underlying digenic interplay, including direct and indirect gene product interactions as well as epigenetic modifications. This review aims to systematically explore the background of digenic inheritance in rare disorders, the approaches and challenges when investigating digenic inheritance, and the current evidence for digenic inheritance in mitochondrial disorders. Full article
(This article belongs to the Special Issue Rare Diseases and Neuroscience)
►▼ Show Figures

Figure 1

28 pages, 1105 KiB  
Review
Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
by Federica Conti, Serena Di Martino, Filippo Drago, Claudio Bucolo, Vincenzo Micale, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso and Piervito Lopriore
Int. J. Mol. Sci. 2023, 24(23), 16746; https://doi.org/10.3390/ijms242316746 - 25 Nov 2023
Cited by 1 | Viewed by 2498
Abstract
Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused by genetically determined impairment of the mitochondrial oxidative phosphorylation (OXPHOS). The unique features of mitochondrial genetics and the pivotal role of mitochondria in cell biology explain the phenotypical heterogeneity of primary mitochondrial [...] Read more.
Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused by genetically determined impairment of the mitochondrial oxidative phosphorylation (OXPHOS). The unique features of mitochondrial genetics and the pivotal role of mitochondria in cell biology explain the phenotypical heterogeneity of primary mitochondrial diseases and the resulting diagnostic challenges that follow. Some peculiar features (“red flags”) may indicate a primary mitochondrial disease, helping the physician to orient in this diagnostic maze. In this narrative review, we aimed to outline the features of the most common mitochondrial red flags offering a general overview on the topic that could help physicians to untangle mitochondrial medicine complexity. Full article
(This article belongs to the Special Issue Rare Diseases and Neuroscience)
►▼ Show Figures

Figure 1

Other

Jump to: Research, Review

6 pages, 2227 KiB  
Case Report
A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis
by Emilien Bernard, Florent Cluse, Adrien Bohic, Marc Hermier, Cédric Raoul, Pascal Leblanc and Claire Guissart
Int. J. Mol. Sci. 2024, 25(15), 8170; https://doi.org/10.3390/ijms25158170 - 26 Jul 2024
Viewed by 1007
Abstract
We investigate the etiology of amyotrophic lateral sclerosis (ALS) in a 35-year-old woman presenting with progressive weakness in her left upper limb. Prior to sequencing, a comprehensive neurological work-up was performed, including neurological examination, electrophysiology, biomarker assessment, and brain and spinal cord MRI. [...] Read more.
We investigate the etiology of amyotrophic lateral sclerosis (ALS) in a 35-year-old woman presenting with progressive weakness in her left upper limb. Prior to sequencing, a comprehensive neurological work-up was performed, including neurological examination, electrophysiology, biomarker assessment, and brain and spinal cord MRI. Six months before evaluation, the patient experienced weakness and atrophy in her left hand, accompanied by brisk reflexes and Hoffman sign in the same arm. Electroneuromyography revealed lower motor neuron involvement in three body regions. Neurofilament light chains were elevated in her cerebrospinal fluid. Brain imaging showed asymmetrical T2 hyperintensity of the corticospinal tracts and T2 linear hypointensity of the precentral gyri. Trio genome sequencing identified a likely pathogenic de novo variant in the KIF1A gene (NM_001244008.2): c.574A>G, p.(Ile192Val). Pathogenic variants in KIF1A have been associated with a wide range of neurological manifestations called KIF1A-associated neurological diseases (KAND). This report describes a likely pathogenic de novo variant in KIF1A associated with ALS, expanding the phenotypic spectrum of KAND and our understanding of the pathophysiology of ALS. Full article
(This article belongs to the Special Issue Rare Diseases and Neuroscience)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-6
Back to TopTop