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Advances in Neurogenetics and Neurogenomics
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Advances in Neurogenetics and Neurogenomics

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

Deadline for manuscript submissions: closed (25 May 2025) | Viewed by 502

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 treatment in development, their early diagnosis is crucial, even is atypical cases.

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

  • Ataxia teleangiectasia—a variant form 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 ethilmalonic acidemia.

Prof. Dr. Ivailo L. 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
  • genetics
  • epilepsy
  • degenerative disorders
  • diagnosis

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

Published Papers (1 paper)

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Research

15 pages, 1330 KiB  
Article
Variant Ataxia–Telangiectasia Presenting as Tremor–Dystonia Syndrome in a Bulgarian Religious Minority
by Teodora Chamova, Tihomir Todorov, Paulius Palaima, Petya Yankova, Iliyana Pacheva, Ivan Ivanov, Bilyana Georgieva, Sylvia Cherninkova, Alexey Savov, Dora Zlatareva, Elisaveta Naumova, Albena Todorova, Albena Jordanova and Ivailo Tournev
Genes 2025, 16(6), 641; https://doi.org/10.3390/genes16060641 - 27 May 2025
Viewed by 276
Abstract
Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder due to mutations in the ATM gene. Given the residual kinase activity and the type of ATM mutation, its clinical spectrum varies from a severe classic phenotype to a variant atypical form. Material and [...] Read more.
Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder due to mutations in the ATM gene. Given the residual kinase activity and the type of ATM mutation, its clinical spectrum varies from a severe classic phenotype to a variant atypical form. Material and methods: This study included 28 patients belonging to four big Bulgarian Muslim pedigrees with tremor and dystonia. Whole-exome sequencing was performed in seven affected individuals from two unrelated pedigrees, followed by Sanger sequencing of the coding sequences and exon–intron borders of the ATM gene. Results: Twenty-four of the affected individuals were homozygous for c.8147T>C (p.Val2716Ala) in ATM, while four of the affected individuals were compound heterozygous. The targeted Sanger sequencing along the ATM gene revealed as a second mutation in three of the patients the splice-site variant c.4909+1G>A and in one patient a synonymous pathogenic variant with a splicing effect, c.3576G>A, p.Lys1192. The age at onset in our group varied between 14 days and 40 years. The main symptoms were dystonia and tremor, more prominent in the upper limbs and the neck, and dystonic dysarthria and dysphagia. The clinical course was very slowly progressive. Brain imaging was normal in the majority of the patients. Conclusion: Clinical features due to mutations in the ATM gene can be very broad. The disease may appear as dystonia, especially of early onset, without frank cerebellar involvement and also normal cerebral imaging. A-T should be considered in all patients with unexplained, even mild movement disorders and elevated α fetoprotein. Full article
(This article belongs to the Special Issue Advances in Neurogenetics and Neurogenomics)
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