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Genetics and Molecular Mechanisms in Psychological and Neuropsychiatric Disorders
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Genetics and Molecular Mechanisms in Psychological and Neuropsychiatric Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 7012

Special Issue Editor

Prof. Dr. Elisabetta Albi

E-Mail Website
Guest Editor
Department of Pharmaceutical Science, University of Perugia, 06100 Perugia, Italy
Interests: lipid metabolism; nuclear lipids; cancer; cell proliferation and differentiation; neurodegenerative disorders; liver; brain; thyroid
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the last decade, the exponential increase in genetic studies has significantly advanced the knowledge of both psychological and neuropsychiatric brain pathologies. Recent research has demonstrated the prevalence of Alzheimer's disease, Parkinson's disease, epilepsy, mood disorders, etc. in different populations and/or in relation to sex. Interestingly, many researchers are turning their attention to the molecular implications of genetic modification. This Special Issue welcomes the submission of original research papers or comprehensive reviews that demonstrate or summarize significant advances in the field of genetics in the pathogenesis of psychological, neurological and psychiatric disorders. Basic research studies and/or clinical studies accompanied by experimental data will be considered.

Prof. Dr. Elisabetta Albi
Guest Editor

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

  • psychological disorder
  • neurological disorders
  • psychiatric disorders
  • genetics lipids

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Published Papers (2 papers)

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Review

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16 pages, 4779 KiB  
Review
Genetic Update and Treatment for Dystonia
by Jan Koptielow, Emilia Szyłak, Olga Szewczyk-Roszczenko, Piotr Roszczenko, Jan Kochanowicz, Alina Kułakowska and Monika Chorąży
Int. J. Mol. Sci. 2024, 25(7), 3571; https://doi.org/10.3390/ijms25073571 - 22 Mar 2024
Cited by 3 | Viewed by 5780
Abstract
A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes [...] Read more.
A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease’s etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson’s disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia. Full article
(This article belongs to the Special Issue Genetics and Molecular Mechanisms in Psychological and Neuropsychiatric Disorders)
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20 pages, 1096 KiB  
Case Report
Premutation Females with preFXTAS
by Valentina Liani, Carme Torrents, Elisa Rolleri, Nor Azyati Yusoff, Narueporn Likhitweerawong, Sydney Moore, Flora Tassone, Andrea Schneider, Ellery Santos, Hazel M. B. Biag, James A. Bourgeois, Kathryn E. Unruh, Matthew W. Mosconi and Randi J. Hagerman
Int. J. Mol. Sci. 2025, 26(6), 2825; https://doi.org/10.3390/ijms26062825 - 20 Mar 2025
Viewed by 661
Abstract
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial symptoms of FXTAS typically manifest in males around the age of 60 with [...] Read more.
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial symptoms of FXTAS typically manifest in males around the age of 60 with motor symptoms and cognitive deficits, the presentation and progression in females differ. Women, in fact, exhibit a higher prevalence of neuropsychiatric symptoms, with an earlier onset compared to the motor symptoms observed in men. The following article reports on ten cases of women with a diagnosis of FMR1 gene premutation, originating from two medical centers. All the women in the study exhibited neuropsychiatric symptoms and subtle neurological signs as common features. Symptoms typically observed in the male population, such as tremors and cerebellar ataxia, were either absent or significantly reduced in the female cohort. Conversely, there was a higher prevalence of neuropsychiatric symptoms among the women. Neurocognitive impairment was only minimally evident, with mild executive dysfunction and memory complaints noted in a subset of cases. For this reason, we propose the terminology preFXTAS or prodromic FXTAS to define a clinical presentation in women characterized by early manifestations of FXTAS that do not entirely fulfill the established diagnostic criteria but exhibit MRI evidence of white matter alterations suggesting the initiation of the disease process. The study underscores the importance of establishing new diagnostic criteria for FXTAS and, at the same time, developing new biomarkers and interview checklists/assessment scales dedicated to females. Full article
(This article belongs to the Special Issue Genetics and Molecular Mechanisms in Psychological and Neuropsychiatric Disorders)
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