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Rare Diseases and Neuroscience
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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: 31 August 2024 | Viewed by 2189

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

Published Papers (2 papers)

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Review

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 148
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)
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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
Viewed by 1432
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)
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