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Neurological Diseases: From Molecular Mechanisms to Clinical Practice
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Neurological Diseases: From Molecular Mechanisms to Clinical Practice

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Clinical Medicine, Cell, and Organism Physiology".

Deadline for manuscript submissions: closed (25 August 2023) | Viewed by 14602

Special Issue Editors

Dr. Svetlana Viktorovna Demyanenko

E-Mail Website
Guest Editor
Academy of Biology and Biotechnology, Southern Federal University, 344090 Rostov-on-Don, Russia
Interests: cerebral ischemia; neurotrauma; neurodegeneration; signaling pathways; epigenetic regulation; apoptosis; neuroprotection
Dr. Denis Silachev

E-Mail Website
Guest Editor
1. Laboratory of the Structure and Function of Mitochondria, A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119992 Moscow, Russia
2. Lab Stem Cells Technology, V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology, 117997 Moscow, Russia
Interests: cerebral ischemia; stroke, trauma; mitochondrial traffic; neuroprotection; ischemic preconditioning; autophagy; aging; intercellular communication
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Numerous studies of the molecular mechanisms of stroke, neurodegenerative diseases and neurotrauma, and the search for their effective diagnostics and therapy in recent decades have yielded various results. The rate of mortality because of these multifactorial diseases is decreasing in developed countries. However, the increasing incidence of neurological diseases in young people together with the population’s aging, as well as discovery of new mutations that cause neurological disorders are not good indicators for the future. Unfortunately, effective methods of neuroprotection are lacking, including stroke treatment agents with proven efficacy, which could protect penumbra neurons and limit the propagation of pathology both in the acute and recovery periods. The available therapies reduce the neurodegeneration rate to a certain extent but cannot cure or significantly slow down a disease. Many suggested agents were found to protect nerve cells in vitro and in animal brain but were ineffective or caused unacceptable side effects in humans. To find effective neuroprotectors, a profound study of the molecular mechanisms of neurodegeneration and neuroprotection is needed.  Between the initial processes leading to damage propagation and the final processes resulting in neurodegeneration or neuroprotection with brain tissue recovery lies a vast field of biochemical signaling connected with transcription and epigenetic mechanisms. This Special Issue on “Neurological Diseases: From Molecular Mechanisms to Clinical Practice” will collect reviews and original articles on new approaches at the preclinical, translational, and clinical levels of research, aiming to find promising strategies for treating neuropathologies.

Dr. Svetlana Viktorovna Demyanenko
Dr. Denis Silachev
Guest Editors

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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

  • acute brain injury
  • neurodegenerative diseases
  • neurotrauma
  • de novo mutation
  • orphan diseases
  • disease models
  • neuroprotection
  • therapeutic strategies
  • drug discovery

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Published Papers (6 papers)

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Research

Jump to: Review, Other

11 pages, 2285 KiB  
Article
Exploring the Association Linking Head Position and Sleep Architecture to Motor Impairment in Parkinson’s Disease: An Exploratory Study
by Oriella Gnarra, Carmen Calvello, Tommaso Schirinzi, Francesca Beozzo, Claudia De Masi, Matteo Spanetta, Mariana Fernandes, Piergiorgio Grillo, Rocco Cerroni, Mariangela Pierantozzi, Claudio L. A. Bassetti, Nicola Biagio Mercuri, Alessandro Stefani and Claudio Liguori
J. Pers. Med. 2023, 13(11), 1591; https://doi.org/10.3390/jpm13111591 - 10 Nov 2023
Cited by 3 | Viewed by 5499
Abstract
Patients with Parkinson’s disease (PD) tend to sleep more frequently in the supine position and less often change head and body position during sleep. Besides sleep quality and continuity, head and body positions are crucial for glymphatic system (GS) activity. This pilot study [...] Read more.
Patients with Parkinson’s disease (PD) tend to sleep more frequently in the supine position and less often change head and body position during sleep. Besides sleep quality and continuity, head and body positions are crucial for glymphatic system (GS) activity. This pilot study evaluated sleep architecture and head position during each sleep stage in idiopathic PD patients without cognitive impairment, correlating sleep data to patients’ motor and non-motor symptoms (NMS). All patients underwent the multi-night recordings, which were acquired using the Sleep Profiler headband. Sleep parameters, sleep time in each head position, and percentage of slow wave activity (SWA) in sleep, stage 3 of non-REM sleep (N3), and REM sleep in the supine position were extracted. Lastly, correlations with motor impairment and NMS were performed. Twenty PD patients (65.7 ± 8.6 y.o, ten women) were included. Sleep architecture did not change across the different nights of recording and showed the prevalence of sleep performed in the supine position. In addition, SWA and N3 were more frequently in the supine head position, and N3 in the supine decubitus correlated with REM sleep performed in the same position; this latter correlated with the disease duration (correlation coefficient = 0.48, p-value = 0.03) and motor impairment (correlation coefficient = 0.53, p-value = 0.02). These preliminary results demonstrated the importance of monitoring sleep in PD patients, supporting the need for preventive strategies in clinical practice for maintaining the lateral head position during the crucial sleep stages (SWA, N3, REM), essential for permitting the GS function and activity and ensuring brain health. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)
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12 pages, 951 KiB  
Article
A Preliminary Study on the Meaning of Inflammatory Indexes in MS: A Neda-Based Approach
by Sena Destan Bunul, Aybala Neslihan Alagoz, Bilge Piri Cinar, Fatih Bunul, Seyma Erdogan and Husnu Efendi
J. Pers. Med. 2023, 13(11), 1537; https://doi.org/10.3390/jpm13111537 - 26 Oct 2023
Cited by 1 | Viewed by 1239
Abstract
Background: Multiple sclerosis (MS) is a disease of the central nervous system characterized by inflammation, demyelination, and axonal degeneration. This study aimed to investigate the relationship between inflammatory indexes and MS disease activity and progression. Methods: A prospective cohort study was conducted at [...] Read more.
Background: Multiple sclerosis (MS) is a disease of the central nervous system characterized by inflammation, demyelination, and axonal degeneration. This study aimed to investigate the relationship between inflammatory indexes and MS disease activity and progression. Methods: A prospective cohort study was conducted at the Kocaeli University Neurology Clinic, involving 108 patients diagnosed with MS. Data related to patient demographics, clinical presentations, radiological findings, and laboratory results were recorded. Inflammatory markers such as NLR (neutrophil-to-lymphocyte ratio), PLR (platelet-to-lymphocyte ratio), MLR (monocyte-to-lymphocyte ratio), and indexes such as SII (systemic immune inflammation index), SIRI (systemic immune response index), and AISI (systemic total aggregation index) were examined to determine their correlation with MS disease activity and disability. When assessing the influence of SII, AISI, and SIRI in predicting NEDA, it was found that all three indexes significantly predict NEDA. All indexes demonstrated a significant relationship with the EDSS score. Notably, SII, SIRI, and AISI were significant predictors of NEDA, and all inflammatory indexes showed a strong intercorrelation. This study investigates the role of inflammation markers in MS patients. It suggests that one or more of these non-invasive, straightforward, and practical markers could complement clinical and radiological parameters in monitoring MS. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)
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10 pages, 259 KiB  
Article
The Association between Electronegative Low-Density Lipoprotein Cholesterol L5 and Cognitive Functions in Patients with Mild Cognitive Impairment
by Ping-Song Chou, Sharon Chia-Ju Chen, Chung-Yao Hsu, Li-Min Liou, Chi-Hung Juan and Chiou-Lian Lai
J. Pers. Med. 2023, 13(2), 192; https://doi.org/10.3390/jpm13020192 - 21 Jan 2023
Viewed by 1545
Abstract
L5, the most electronegative subfraction of low-density lipoprotein cholesterol (LDL-C), may play a role in the pathogenesis of cerebrovascular dysfunction and neurodegeneration. We hypothesized that serum L5 is associated with cognitive impairment and investigated the association between serum L5 levels and cognitive performance [...] Read more.
L5, the most electronegative subfraction of low-density lipoprotein cholesterol (LDL-C), may play a role in the pathogenesis of cerebrovascular dysfunction and neurodegeneration. We hypothesized that serum L5 is associated with cognitive impairment and investigated the association between serum L5 levels and cognitive performance in patients with mild cognitive impairment (MCI). This cross-sectional study conducted in Taiwan included 22 patients with MCI and 40 older people with normal cognition (healthy controls). All participants were assessed with the Cognitive Abilities Screening Instrument (CASI) and a CASI-estimated Mini-Mental State Examination (MMSE-CE). We compared the serum total cholesterol (TC), LDL-C, and L5 levels between the MCI and control groups and examined the association between lipid profiles and cognitive performance in these groups. The serum L5 concentration and total CASI scores were significantly negatively correlated in the MCI group. Serum L5% was negatively correlated with MMSE-CE and total CASI scores, particularly in the orientation and language subdomains. No significant correlation between the serum L5 level and cognitive performance was noted in the control group. Conclusions: Serum L5, instead of TC or total LDL-C, could be associated with cognitive impairment through a disease stage-dependent mode that occurs during neurodegeneration. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)

Review

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18 pages, 2132 KiB  
Review
Cerebral Venous Thrombosis during Thyrotoxicosis: Case Report and Literature Update
by Emanuela Maria Raho, Annibale Antonioni, Niccolò Cotta Ramusino, Dina Jubea, Daniela Gragnaniello, Paola Franceschetti, Francesco Penitenti, Andrea Daniele, Maria Chiara Zatelli, Maurizio Naccarato, Ilaria Traluci, Maura Pugliatti and Marina Padroni
J. Pers. Med. 2023, 13(11), 1557; https://doi.org/10.3390/jpm13111557 - 30 Oct 2023
Cited by 2 | Viewed by 1718
Abstract
Cerebral venous thrombosis (CVT) is a rare cause of stroke, particularly in young adults. Several known thrombophilic conditions may lead to an increased CVT risk. Interestingly, few cases in the literature have reported an association between CVT and thyrotoxicosis. Here, we describe the [...] Read more.
Cerebral venous thrombosis (CVT) is a rare cause of stroke, particularly in young adults. Several known thrombophilic conditions may lead to an increased CVT risk. Interestingly, few cases in the literature have reported an association between CVT and thyrotoxicosis. Here, we describe the case of a young woman with CVT and concomitant thyrotoxicosis, without any other known prothrombotic conditions. We also performed a literature review of CVT cases and hyperthyroidism, searching for all articles published in peer-reviewed journals. We identified 39 case reports/case series concerning patients with CVT associated with thyrotoxicosis, highlighting, in most cases, the association with additional known prothrombotic factors. We then discussed the possible mechanisms by which hyperthyroidism could underlie a pro-coagulative state resulting in CVT. Thyroid disease might be a more common prothrombotic risk factor than expected in determining CVT. However, in most cases, a coexistence of multiple risk factors was observed, suggesting a multifactorial genesis of the disorder. We hope that this work may alert clinicians to consider thyrotoxicosis as a potential risk factor for CVT, even in patients who apparently have no other pro-coagulative conditions. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)
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15 pages, 904 KiB  
Review
The Role of Matrix Metalloproteinases in Hemorrhagic Transformation in the Treatment of Stroke with Tissue Plasminogen Activator
by Valentina A. Babenko, Ksenia S. Fedulova, Denis N. Silachev, Parvaneh Rahimi-Moghaddam, Yulia N. Kalyuzhnaya, Svetlana V. Demyanenko and Egor Y. Plotnikov
J. Pers. Med. 2023, 13(7), 1175; https://doi.org/10.3390/jpm13071175 - 23 Jul 2023
Cited by 2 | Viewed by 1799
Abstract
Ischemic stroke is a leading cause of disability and mortality worldwide. The only approved treatment for ischemic stroke is thrombolytic therapy with tissue plasminogen activator (tPA), though this approach often leads to a severe complication: hemorrhagic transformation (HT). The pathophysiology of HT in [...] Read more.
Ischemic stroke is a leading cause of disability and mortality worldwide. The only approved treatment for ischemic stroke is thrombolytic therapy with tissue plasminogen activator (tPA), though this approach often leads to a severe complication: hemorrhagic transformation (HT). The pathophysiology of HT in response to tPA is complex and not fully understood. However, numerous scientific findings suggest that the enzymatic activity and expression of matrix metalloproteinases (MMPs) in brain tissue play a crucial role. In this review article, we summarize the current knowledge of the functioning of various MMPs at different stages of ischemic stroke development and their association with HT. We also discuss the mechanisms that underlie the effect of tPA on MMPs as the main cause of the adverse effects of thrombolytic therapy. Finally, we describe recent research that aimed to develop new strategies to modulate MMP activity to improve the efficacy of thrombolytic therapy. The ultimate goal is to provide more targeted and personalized treatment options for patients with ischemic stroke to minimize complications and improve clinical outcomes. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)
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Other

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7 pages, 629 KiB  
Case Report
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization
by Michela Ripolone, Simona Zanotti, Laura Napoli, Dario Ronchi, Patrizia Ciscato, Giacomo Pietro Comi, Maurizio Moggio and Monica Sciacco
J. Pers. Med. 2023, 13(1), 147; https://doi.org/10.3390/jpm13010147 - 11 Jan 2023
Cited by 2 | Viewed by 2069
Abstract
A 53-year-old man approached our Neuromuscular Unit following an incidental finding of hyperckemia. Similar to his mother who had died at the age of 77 years, he was diabetic and had a few lipomas. The patient’s two sisters, aged 60 and 50 years, [...] Read more.
A 53-year-old man approached our Neuromuscular Unit following an incidental finding of hyperckemia. Similar to his mother who had died at the age of 77 years, he was diabetic and had a few lipomas. The patient’s two sisters, aged 60 and 50 years, did not have any neurological symptoms. Proband’s skeletal muscle biopsy showed several COX-negative fibers, many of which were “ragged red”. Genetic analysis revealed the presence of the A8344G mtDNA mutation, which is most commonly associated with a maternally inherited multisystem mitochondrial disorder known as MERRF (myoclonus epilepsy with ragged-red fibers). The two sisters also carry the mutation. Family members on the maternal side were reported healthy. Although atypical phenotypes have been reported in association with the A8344G mutation, central nervous system (CSN) manifestations other than myoclonic epilepsy are always reported in the family tree. If present, our four-generation family manifestations are late-onset and do not affect CNS. This could be explained by the fact that the mutational load remains low and therefore prevents tissues/organs from reaching the pathologic threshold. The fact that this occurs throughout generations and that CNS, which has the highest energetic demand, is clinically spared, suggests that regulatory genes and/or pathways affect mitochondrial segregation and replication, and protect organs from progressive dysfunction. Full article
(This article belongs to the Special Issue Neurological Diseases: From Molecular Mechanisms to Clinical Practice)
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