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Role of Genetic Tools in Diagnosis and Personalized Treatment for...
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Role of Genetic Tools in Diagnosis and Personalized Treatment for Neurological Diseases

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Personalized Therapy and Drug Delivery".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 1571

Special Issue Editor

Dr. Federica Scalia

E-Mail Website
Guest Editor
Department of Biomedicine, Neurosciences and Advanced Diagnostic (BiND), Human Anatomy Section, University of Palermo, 90127 Palermo, Italy
Interests: neurodegenerative and neuromuscular disorders; neurodevelopmental disorders; anatomy; rare genetic diseases; chaperone system; bioinformatics; in silico studies; DNA sequencing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Many human diseases are related to genetic variants, and most of them cause damage to the nervous system. Scientists' interest in understanding how these variations can influence the phenotype and susceptibility to certain pathologies is ever greater due to the surge in age-related neurodegenerative diseases and the constant increase in the incidence of neurodevelopmental disorders. However, many of these pathologies are characterized by an enormous phenotypic and genotypic heterogeneity whereby the differential and genetic diagnosis is challenging, making the patients orphans of treatment and enlarging the pool of the rare diseases. 
Genome-wide association studies have been of enormous help in identifying statistical associations between gene variants and disease phenotypes; however, it has contributed little to the understanding of complex pathologies. Therefore, the use of new and more performing genetic tools and tests, together with new tech multidisciplinary approaches (e.g., bioinformatics and artificial intelligence-based tools), is necessary not only to improve the diagnosis processes and satisfy the urgent need for effective personalized treatments, but also for the evaluation of the individual risk of developing a certain neurological disease and to explore the aspects relating to pharmacogenomics.

This Special Issue will provide a platform for interested computational and experimental developers to disseminate their studies and, at the same time, it will open discussions and new perspectives on recent advances in specialized areas of research.

Dr. Federica Scalia
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. Journal of Personalized Medicine 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

  • neurological disorders
  • molecular modeling
  • bioinformatics
  • genetic tools
  • genetic variants
  • omic technologies
  • DNA sequencing
  • newborn screening
  • therapeutic procedure
  • mechanism of action

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Published Papers (1 paper)

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Research

11 pages, 638 KiB  
Article
Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant
by Christian Messina, Salvatore Gulizia, Federica Scalia, Eugenia Borgione, Francesco Cappello, Filippo Brighina and Vincenzo Di Stefano
J. Pers. Med. 2025, 15(2), 61; https://doi.org/10.3390/jpm15020061 - 6 Feb 2025
Cited by 1 | Viewed by 783
Abstract
Introduction. Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin (TTR) gene, leading to cardiological, neurological, or mixed phenotypes. Apart from the Glu89Gln, Phe64Leu, and [...] Read more.
Introduction. Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin (TTR) gene, leading to cardiological, neurological, or mixed phenotypes. Apart from the Glu89Gln, Phe64Leu, and Thr49Ala variants, recently, other mutations of TTR gene have been reported in Sicily (His90Asn, Val122Ile, Ser77Phe, Val20Ala). With this paper, we describe a novel mutation in the TTR gene, the Glu61Ala variant, which had been previously reported in only one case with a cardiac phenotype, and the clinical findings surrounding it. Materials and Methods. One individual affected by chronic idiopathic polyneuropathy and a major red flag for hATTR underwent genetic testing to look for mutations in the TTR gene. Then, his relatives were subjected to the same test. We assessed the anamnestic profile and conducted general and neurological examination, blood tests, nerve conduction studies (NCS), electrocardiogram, and Sudoscan for each patient. Written informed consent was acquired for every patient. Results. Among 7 patients screened, 5 patients carried the Glu61Ala variant (71%). The mean age was 64.6 ± 10.2 years, whereas the mean age at onset was 59.4 ± 7.9 years. In our study, three patients (60%) showed a mixed phenotype, whereas two of them (40%) showed a neurological phenotype. Discussion. The Glu61Ala variant was reported only in one case with a cardiological phenotype, but our patients showed both neurological and cardiological involvement. Further studies are needed to improve knowledge of this genetic variant. Full article
(This article belongs to the Special Issue Role of Genetic Tools in Diagnosis and Personalized Treatment for Neurological Diseases)
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