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Neurodegenerative Diseases: Modern Diagnostic Techniques and Emerging Therapeutic Perspectives
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Neurodegenerative Diseases: Modern Diagnostic Techniques and Emerging Therapeutic Perspectives

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 December 2022) | Viewed by 7367

Special Issue Editor

Prof. Dr. Mariarosa Anna Beatrice Melone

E-Mail Website
Guest Editor
1. Department of Medical and Surgical Advanced Sciences Second Division of Neurology, Center for Rare Neurological and Neuromuscular Diseases & Inter University Center for Research in Neurosciences, University of Campania Luigi Vanvitelli, Naples, Italy
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA
Interests: genetics of rare neurologic and neuromuscular diseases; translational neurogenetics; clinical & molecular neurogenetics; applied stem cell biology; systems neuroscience; neuropathology and experimental neurobiology; nanotechnology in nutraceuticals and functional fods; roles of autophagy in neurodegenerative diseases; clinical neurology of adults and children
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

About two decades ago, knowledge about neurodegenerative diseases was circumscribed due to the clinical aspects. However, recent genetic advances, for example, in movement disorders, leukodystrophies, and neuropathies, have proven to be of great relevance and significance for our clinical and research practice. Further, in the era of exome/genome sequencing, diagnosis approaches have also changed. A growing number of studies show the pivotal role played by gender in the prevalence and natural course of various diseases. This is evident in some neurodegenerative diseases such as Parkinson’s disease or dementia with Lewy bodies, which seem to be prevalent in men, and Alzheimer’s disease, which seems to be prevalent in women. However, gender differences have not been fully identified in autosomal genetic diseases. It is also known that women with X-linked diseases become symptomatic in middle age. These all provide new ideas for the diagnosis and treatment of neurodegenerative diseases.

This Special Issue aims to provide a platform for research that explores the diagnostic techniques and emerging therapeutic perspectives for neurodegenerative diseases (such as Parkinson’s, Alzheimer’s, multiple sclerosis, amyotrophic lateral sclerosis, Huntington’s disease, multiple system atrophy, prion diseases, and others).

Prof. Dr. Mariarosa Anna Beatrice Melone
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. 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

  • neurodegenerative disorders
  • Parkinson’s disease
  • Alzheimer's disease
  • amyotrophic lateral sclerosis
  • multiple sclerosis
  • Huntington's disease
  • multiple system atrophy
  • prion diseases
  • exome/genome sequencing

Published Papers (3 papers)

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7 pages, 807 KiB  
Article
The APOE ε4 Allele Affects Cognitive Functions Differently in Carriers of APP Mutations Compared to Carriers of PSEN1 Mutations in Autosomal-Dominant Alzheimer’s Disease
by Ove Almkvist and Caroline Graff
Genes 2021, 12(12), 1954; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12121954 - 07 Dec 2021
Cited by 2 | Viewed by 2118
Abstract
Mounting evidence shows that the APOE ε4 allele interferes with cognition in sporadic Alzheimer’s disease. Less is known about APOE in autosomal-dominant Alzheimer’s disease (adAD). The present study explored the effects on cognition associated with the gene–gene interactions between the APOE gene and [...] Read more.
Mounting evidence shows that the APOE ε4 allele interferes with cognition in sporadic Alzheimer’s disease. Less is known about APOE in autosomal-dominant Alzheimer’s disease (adAD). The present study explored the effects on cognition associated with the gene–gene interactions between the APOE gene and the APP and PSEN1 genes in adAD. This study includes mutation carriers (MC) and non-carriers (NC) from adAD families with mutations in APP (n = 28 and n = 25; MC and NC, respectively) and PSEN1 (n = 12 and n = 15; MC and NC, respectively) that represent the complete spectrum of disease: AD dementia (n = 8) and mild cognitive impairment (MCI, n = 15 and presymptomatic AD, n = 17). NC represented unimpaired normal aging. There was no significant difference in the distribution of APOE ε4 (absence vs. presence) between the APP vs. PSEN1 adAD genes and mutation status (MC vs. NC). However, episodic memory was significantly affected by the interaction between APOE and the APP vs. PSEN1 genes in MC. This was explained by favorable performance in the absence of APOE ε4 in PSEN1 compared to APP MC. Similar trends were seen in other cognitive functions. No significant associations between APOE ε4 and cognitive performance were obtained in NC. In conclusion, cognitive effects of APOE–adAD gene interaction were differentiated between the PSEN1 and APP mutation carriers, indicating epistasis. Full article
(This article belongs to the Special Issue Neurodegenerative Diseases: Modern Diagnostic Techniques and Emerging Therapeutic Perspectives)
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20 pages, 2512 KiB  
Article
Association of a Total Cholesterol Polygenic Score with Cholesterol Levels and Pathological Biomarkers across the Alzheimer’s Disease Spectrum
by Nathalie I. V. Nilsson, Cynthia Picard, Anne Labonté, Theresa Köbe, Pierre-François Meyer, Sylvia Villeneuve, Daniel Auld, Judes Poirier, for the PREVENT-AD Research Group and Alzheimer’s Disease Neuroimaging Initiative
Genes 2021, 12(11), 1805; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12111805 - 17 Nov 2021
Cited by 3 | Viewed by 2189
Abstract
Midlife hypercholesterolemia is a well-known risk factor for sporadic Alzheimer’s disease (AD), and like AD, it is highly influenced by genetics with heritability estimates of 32–63%. We thus hypothesized that genetics underlying peripheral blood total cholesterol (TC) levels could influence the risk of [...] Read more.
Midlife hypercholesterolemia is a well-known risk factor for sporadic Alzheimer’s disease (AD), and like AD, it is highly influenced by genetics with heritability estimates of 32–63%. We thus hypothesized that genetics underlying peripheral blood total cholesterol (TC) levels could influence the risk of developing AD. We created a weighted polygenic score (TC-PGS) using summary data from a meta-analysis of TC genome-wide association studies for evaluation in three independent AD-related cohorts spanning pre-clinical, clinical, and pathophysiologically proved AD. APOE-ε4 variant was purposely included in the analysis as it represents an already well-established genetic risk factor for both AD and circulating TC. We could vastly improve the performance of the score when considering p-value thresholds for inclusion in the score, sex, and statin use. This optimized score (p-value threshold of 1 × 10−6 for inclusion in the score) explained 18.2% of the variance in TC levels in statin free females compared to 6.9% in the entire sample and improved prediction of hypercholesterolemia (receiver operator characteristics analysis revealed area under the curve increase from 70.8% to 80.5%). The TC-PGS was further evaluated for association with AD risk and pathology. We found no association between the TC-PGS and either of the AD hallmark pathologies, assessed by cerebrospinal fluid levels of Aβ-42, p-Tau, and t-Tau, and 18F-NAV4694 and 18F-AV-1451 positron emission tomography. Similarly, we found no association with the risk of developing amyloid pathology or becoming cognitively impaired in individuals with amyloid pathology. Full article
(This article belongs to the Special Issue Neurodegenerative Diseases: Modern Diagnostic Techniques and Emerging Therapeutic Perspectives)
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Other

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12 pages, 1738 KiB  
Case Report
Two Rare Variants in PLAU and BACE1 Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?
by Katarzyna Gaweda-Walerych, Emilia J. Sitek, Małgorzata Borczyk, Mariusz Berdyński, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Jarosław Sławek and Cezary Zekanowski
Genes 2021, 12(11), 1806; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12111806 - 17 Nov 2021
Cited by 2 | Viewed by 2241
Abstract
We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown significance (VUS) [...] Read more.
We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown significance (VUS) have been identified: a nonsense variant c.366C>A/p.Cys122* in plasminogen activator, urokinase (PLAU) and a missense variant c.944C>T/p.Thr315Met in β-site APP-cleaving enzyme 1 (BACE1)—along with known disease-modifying variants of moderate penetrance. Patient-derived fibroblasts showed reduced PLAU and elevated BACE1 mRNA and protein levels compared to control fibroblasts. Successful rescue of PLAU mRNA levels by nonsense-mediated mRNA decay (NMD) inhibitor (puromycin) confirmed NMD as the underlying mechanism. This is the first report of the PLAU variant with the confirmed haploinsufficiency, associated with semantic dementia phenotype. Our results suggest that rare variants in the PLAU and BACE1 genes should be considered in future studies on early-onset dementias. Full article
(This article belongs to the Special Issue Neurodegenerative Diseases: Modern Diagnostic Techniques and Emerging Therapeutic Perspectives)
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