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Genes
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Advances in Neurogenetics
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Advances in Neurogenetics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: 20 September 2024 | Viewed by 352

Special Issue Editors

Prof. Dr. Ivailo L. Tournev

E-Mail Website
Guest Editor
Department of Cognitive Science and Psychology, Alexandrovska University Hospital, New Bulgarian University, Sofia, Bulgaria
Interests: clinical neurogenetics; neuromuscular diseases; ATTR amyloidosis; metabolic diseases
Dr. Teodora Chamova

E-Mail Website
Guest Editor
University Hospital Alexandrovska, Sofia, Bulgaria
Interests: neurology; genetic disease

Special Issue Information

Dear Colleagues,

This Special Issue will be dedicated to the advances in the genetics of some degenerative disorders of the central and peripheral nervous systems and muscles.

It will encompass a wide spectrum of genetic neurologic diseases.

As some of these disorders have approved therapies or treatments in development, their early diagnosis, even in atypical cases, is crucial.

The main topics that will be covered are related to the following:

  • Ataxia teleangiectasia, a variant form prevalent among a religious minority of Bulgarian muslims;
  • HATTR amyloidosis, a rare disease in an endemic country;
  • Genetics of amyotrophic lateral sclerosis;
  • Phenotypic variability of LGMD 2C in a genetically homogenous group of Bulgarian Roma;
  • Genetics of epilepsy;
  • An atypical case of ethylmalonic acidemia.

Prof. Dr. Ivailo L. Tournev
Dr. Teodora Chamova
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. Genes is an international peer-reviewed open access monthly 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

  • neurologic diseases
  • genetic
  • epilepsy
  • degenerative disorders
  • diagnosis

Published Papers (1 paper)

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Review

17 pages, 904 KiB  
Review
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease
by Valerio Caruso, Accursio Raia and Luciana Rigoli
Genes 2024, 15(8), 984; https://doi.org/10.3390/genes15080984 - 25 Jul 2024
Viewed by 143
Abstract
Wolfram syndrome 1 (WS1) is an uncommon autosomal recessive neurological disorder that is characterized by diabetes insipidus, early-onset non-autoimmune diabetes mellitus, optic atrophy, and deafness (DIDMOAD). Other clinical manifestations are neuropsychiatric symptoms, urinary tract alterations, and endocrinological disorders. The rapid clinical course of [...] Read more.
Wolfram syndrome 1 (WS1) is an uncommon autosomal recessive neurological disorder that is characterized by diabetes insipidus, early-onset non-autoimmune diabetes mellitus, optic atrophy, and deafness (DIDMOAD). Other clinical manifestations are neuropsychiatric symptoms, urinary tract alterations, and endocrinological disorders. The rapid clinical course of WS1 results in death by the age of 30. Severe brain atrophy leads to central respiratory failure, which is the main cause of death in WS1 patients. Mutations in the WFS1 gene, located on chromosome 4p16, account for approximately 90% of WS1 cases. The gene produces wolframin, a transmembrane glycoprotein widely distributed and highly expressed in retinal, neural, and muscular tissues. Wolframin plays a crucial role in the regulation of apoptosis, insulin signaling, and ER calcium homeostasis, as well as the ER stress response. WS1 has been designated as a neurodegenerative and neurodevelopmental disorder due to the numerous abnormalities in the ER stress-mediated system. WS1 is a devastating neurodegenerative disease that affects patients and their families. Early diagnosis and recognition of the initial clinical signs may slow the disease’s progression and improve symptomatology. Moreover, genetic counseling should be provided to the patient’s relatives to extend multidisciplinary care to their first-degree family members. Regrettably, there are currently no specific drugs for the therapy of this fatal disease. A better understanding of the etiology of WS1 will make possible the development of new therapeutic approaches that may enhance the life expectancy of patients. This review will examine the pathogenetic mechanisms, development, and progression of neuropsychiatric symptoms commonly associated with WS1. A thorough understanding of WS1’s neurophysiopathology is critical for achieving the goal of improving patients’ quality of life and life expectancy. Full article
(This article belongs to the Special Issue Advances in Neurogenetics)
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