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Brain Sciences
Special Issues
Genetics of Neurodegenerative Diseases: Retrospect and Prospect
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Genetics of Neurodegenerative Diseases: Retrospect and Prospect

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neurodegenerative Diseases".

Deadline for manuscript submissions: 30 May 2025 | Viewed by 4061

Special Issue Editors

Dr. Kallirhoe Kalinderi

E-Mail Website
Guest Editor
Laboratory of Medical Biology-Genetics, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Interests: genetics; neurodegeneration; Parkinson’s disease; Alzheimer’s disease; biomarkers; pharmacogenetics
Special Issues, Collections and Topics in MDPI journals
Dr. Vasileios T. Papaliagkas

E-Mail Website
Guest Editor
Department of Biomedical Sciences, School of Health Sciences, International Hellenic University, Thessaloniki, Greece
Interests: Alzheimer’s disease; neurodegenerative diseases; clinical neurophysiology; event-related potentials
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurodegenerative diseases (NDs) are a heterogeneous group of complex diseases characterized by progressive degeneration of specific neuronal populations. Their prevalence increases with age, imposing a significant health, social and economic burden worldwide. NDs are characterized by pathological protein aggregation (e.g., β-amyloid, tau, α-synuclein); however, the exact pathogenic mechanisms are still elusive. Despite intense research, there is currently no effective drug to halt ND progression.

This Special Issue is focused on the role of genetics in NDs. In the era of precision medicine, genetic variations are considered a fundamental factor in disease susceptibility, diagnosis, prediction, patient stratification and individualized therapy. We are particularly interested in original articles, reviews and case reports that provide new insights into the genetic contribution of NDs, aiming to better understand the pathogenesis of NDs, recognize possible pathophysiological overlapping mechanisms and prodromal genetic phenotypes, and identify potential novel therapeutic targets and strategies against these devastating diseases.

Dr. Kallirhoe Kalinderi
Dr. Vasileios T. Papaliagkas
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. Brain Sciences 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 2200 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

  • Alzheimer's disease (AD)
  • Parkinson's disease (PD)
  • amyotrophic lateral sclerosis (ALS)
  • multiple sclerosis
  • neurodegeneration
  • protein aggregation
  • therapy
  • pharmacogenetics
  • gene
  • nutrigenomics

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Published Papers (2 papers)

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Review

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15 pages, 276 KiB  
Review
Surgicogenomics: The Role of Genetics in Deep Brain Stimulation in Parkinson’s Disease Patients
by Kallirhoe Kalinderi, Vasileios Papaliagkas and Liana Fidani
Brain Sci. 2024, 14(8), 800; https://doi.org/10.3390/brainsci14080800 - 9 Aug 2024
Cited by 1 | Viewed by 2296
Abstract
Parkinson’s disease (PD) is the second-most common neurodegenerative disease, affecting 1% of people aged over 60. Currently, there is only symptomatic relief for PD patients, with levodopa being the gold standard of PD treatment. Deep brain stimulation (DBS) is a surgical option to [...] Read more.
Parkinson’s disease (PD) is the second-most common neurodegenerative disease, affecting 1% of people aged over 60. Currently, there is only symptomatic relief for PD patients, with levodopa being the gold standard of PD treatment. Deep brain stimulation (DBS) is a surgical option to treat PD patients. DBS improves motor functions and may also allow a significant reduction in dopaminergic medication. Important parameters for DBS outcomes are the disease duration, the age of disease onset, responsiveness to levodopa and cognitive or psychiatric comorbidities. Emerging data also highlight the need to carefully consider the genetic background in the preoperative assessment of PD patients who are candidates for DBS, as genetic factors may affect the effectiveness of DBS in these patients. This review article discusses the role of genetics in DBS for PD patients, in an attempt to better understand inter-individual variability in DBS response, control of motor PD symptoms and appearance of non-motor symptoms, especially cognitive decline. Full article
(This article belongs to the Special Issue Genetics of Neurodegenerative Diseases: Retrospect and Prospect)

Other

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12 pages, 1345 KiB  
Case Report
Neuropsychological Characteristics and Quantitative Electroencephalography in Skogholt’s Disease—A Rare Neurodegenerative Disease in a Norwegian Family
by Knut A. Hestad, Jan O. Aaseth and Juri D. Kropotov
Brain Sci. 2024, 14(9), 905; https://doi.org/10.3390/brainsci14090905 - 6 Sep 2024
Viewed by 999
Abstract
Members of three generations of a Norwegian family (N = 9) with a rare demyelinating disease were studied. Neuropsychological testing was performed using the Mini Mental Status Examination (MMSE), Wechsler Intelligence Scale-III (WAIS-III), and Hopkins Verbal Learning Test-Revised (HVLT-R). EEGs were recorded with [...] Read more.
Members of three generations of a Norwegian family (N = 9) with a rare demyelinating disease were studied. Neuropsychological testing was performed using the Mini Mental Status Examination (MMSE), Wechsler Intelligence Scale-III (WAIS-III), and Hopkins Verbal Learning Test-Revised (HVLT-R). EEGs were recorded with grand averaging spectrograms and event-related potentials (ERPs) in rest and cued GO/NOGO task conditions. The results were within the normal range on the MMSE. Full-scale WAIS-III results were in the range of 69–113, with lower scores in verbal understanding than in perceptual organization, and low scores also in indications of working memory and processing speed difficulties. The HVLT-R showed impairment of both immediate and delayed recall. Quantitative EEG showed an increase in low alpha (around 7.5 Hz) activity in the temporofrontal areas, mostly on the left side. There was a deviation in the late (>300 ms) component in response to the NOGO stimuli. A strong correlation (r = 0.78, p = 0.01) between the Hopkins Verbal Learning Test (delayed recall) and the amplitude of the NOGO ERP component was observed. The EEG spectra showed deviations from the healthy controls, especially at frontotemporal deviations. Deviations in the ERP component of the NOGO trials were related to delayed recall in the Hopkins Verbal learning test. Full article
(This article belongs to the Special Issue Genetics of Neurodegenerative Diseases: Retrospect and Prospect)
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