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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: closed (20 September 2024) | Viewed by 7000

Special Issue Editors

Prof. Dr. Ivailo L. Tournev

E-Mail Website
Guest Editor
1. Alexandrovska University Hospital, Sofia, Bulgaria
2. Department of cognitive science and psychology, New Bulgarian University, Sofia, Bulgaria
Interests: clinical neurogenetics; neuromuscular diseases; ATTR amyloidoisis; metabolic diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Teodora Chamova

E-Mail Website
Guest Editor
University Hospital Alexandrovska, Sofia, Bulgaria
Interests: neurology; genetic disease
Special Issues, Collections and Topics in MDPI journals

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

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Published Papers (4 papers)

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Research

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11 pages, 1876 KiB  
Article
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma
by Ani Taneva, David Gresham, Velina Guergueltcheva, Teodora Chamova, Veneta Bojinova, Mariana Gospodinova, Maria Katzarova, Radoslav Petkov, Thomas Voit, Lidia Aneva, Ognyan Asenov, Bilyana Georgieva, Violeta Mihaylova, Stoyan Bichev, Tihomir Todorov, Albena Todorova, Luba Kalaydjieva and Ivailo Tournev
Genes 2024, 15(9), 1144; https://doi.org/10.3390/genes15091144 - 30 Aug 2024
Viewed by 1055
Abstract
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB, SGCG and [...] Read more.
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees. Molecular genetic analysis showed that all 57 patients were homozygous for the C283Y variant. The muscles of the pelvic girdle and the trunk were affected early and were more severely affected, followed by the shoulder girdle. Macroglossia, hypertrophy of the calves, scapular winging and lumbar hyperlordosis were common in the ambulatory phase. A great intra and interfamilial variability in the clinical presentation of LGMD 2C/R5 was observed, despite having the same underlying molecular defect. Females demonstrated a relatively milder clinical course compared to males. Mean creatine phosphokinase (CK) CK levels were 20 times above normal values. Muscle computer tomography (CT) CT or MRIs showed earlier and more severe involvement of the flexor proximal limb muscles in comparison to extensor muscles. Full article
(This article belongs to the Special Issue Advances in Neurogenetics)
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Review

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11 pages, 555 KiB  
Review
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature
by Iro Boura, Irene Areti Giannopoulou, Vasiliki Pavlaki, Georgia Xiromerisiou, Panayiotis Mitsias and Cleanthe Spanaki
Genes 2024, 15(10), 1344; https://doi.org/10.3390/genes15101344 - 21 Oct 2024
Cited by 1 | Viewed by 1691
Abstract
Background/Objectives: The genetic underpinnings of Parkinson’s disease (PD) and parkinsonism have drawn increasing attention in recent years. Mutations in the Factor-Induced Gene 4 (FIG4) have been implicated in various neurological disorders, including Charcot-Marie-Tooth disease type 4J (CMT4J), amyotrophic lateral sclerosis (ALS), [...] Read more.
Background/Objectives: The genetic underpinnings of Parkinson’s disease (PD) and parkinsonism have drawn increasing attention in recent years. Mutations in the Factor-Induced Gene 4 (FIG4) have been implicated in various neurological disorders, including Charcot-Marie-Tooth disease type 4J (CMT4J), amyotrophic lateral sclerosis (ALS), and Yunis-Varón syndrome. This review aims to explore the association between FIG4 mutations and parkinsonism, with a specific focus on the rare missense mutation p.Ile41Thr (I41T). Methods: We identified 12 cases from 10 different families in which parkinsonism was reported in conjunction with CMT4J polyneuropathy. All cases involved the I41T mutation in a compound heterozygous state, combined with a FIG4 loss-of-function mutation. Data from clinical observations, neuroimaging studies, and genetic analyses were evaluated to understand the characteristics of parkinsonism in these patients. Results: In all 12 cases, parkinsonism developed either concurrently or following the onset of CMT4J neuropathy, but was never observed in isolation. Cases of both early- and late-onset parkinsonism were identified, reflecting similarities to genetic forms of parkinsonism with autosomal recessive inheritance. Imaging studies, including Dopamine transporter Single Photon Emission Computed Tomography (DaTscan) and brain magnetic resonance imaging (MRI), revealed abnormalities indicative of neurodegeneration, consistent with findings in other neurodegenerative disorders. Conclusions: The co-occurrence of parkinsonism with CMT4J in patients carrying the I41T mutation suggests an expanded spectrum of FIG4-related disorders, potentially implicating the same molecular mechanisms seen in other neurodegenerative disorders. Further research into FIG4-mediated pathways may offer valuable insights into potential therapeutic targets for disorders of both the central and peripheral nervous systems. Full article
(This article belongs to the Special Issue Advances in Neurogenetics)
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17 pages, 3630 KiB  
Review
Genetic Diversity in Schizophrenia: Developmental Implications of Ultra-Rare, Protein-Truncating Mutations
by Jacob D. Clarin, Nadia N. Bouras and Wen-Jun Gao
Genes 2024, 15(9), 1214; https://doi.org/10.3390/genes15091214 - 17 Sep 2024
Cited by 1 | Viewed by 2130
Abstract
The genetic basis of schizophrenia (SZ) remains elusive despite its characterization as a highly heritable disorder. This incomplete understanding has led to stagnation in therapeutics and treatment, leaving many suffering with insufficient relief from symptoms. However, recent large-cohort genome- and exome-wide association studies [...] Read more.
The genetic basis of schizophrenia (SZ) remains elusive despite its characterization as a highly heritable disorder. This incomplete understanding has led to stagnation in therapeutics and treatment, leaving many suffering with insufficient relief from symptoms. However, recent large-cohort genome- and exome-wide association studies have provided insights into the underlying genetic machinery. The scale of these studies allows for the identification of ultra-rare mutations that confer substantial disease risk, guiding clinicians and researchers toward general classes of genes that are central to SZ etiology. One such large-scale collaboration effort by the Schizophrenia Exome Sequencing Meta-Analysis consortium identified ten, high-risk, ultra-rare, protein-truncating variants, providing the clearest picture to date of the dysfunctional gene products that substantially increase risk for SZ. While genetic studies of SZ provide valuable information regarding “what” genes are linked with the disorder, it is an open question as to “when” during brain development these genetic mutations impose deleterious effects. To shed light on this unresolved aspect of SZ etiology, we queried the BrainSpan developmental mRNA expression database for these ten high-risk genes and discovered three general expression trajectories throughout pre- and postnatal brain development. The elusiveness of SZ etiology, we infer, is not only borne out of the genetic heterogeneity across clinical cases, but also in our incomplete understanding of how genetic mutations perturb neurodevelopment during multiple critical periods. We contextualize this notion within the National Institute of Mental Health’s Research Domain Criteria framework and emphasize the utility of considering both genetic variables and developmental context in future studies. Full article
(This article belongs to the Special Issue Advances in Neurogenetics)
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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
Cited by 2 | Viewed by 1531
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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