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Biomedicines
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Understanding Diseases Affecting the Central Nervous System
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Understanding Diseases Affecting the Central Nervous System

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 14284

Special Issue Editors

Dr. Olga Koper-Lenkiewicz

E-Mail Website
Guest Editor
Department of Clinical Laboratory Diagnostics, Medical University of Bialystok, Waszyngtona 15A, 15-269 Bialystok, Poland
Interests: cerebrospinal fluid; biomarker; central nervous system diseases; cancer
Special Issues, Collections and Topics in MDPI journals
Dr. Joanna Kamińska

E-Mail Website
Guest Editor
Department of Clinical Laboratory Diagnostics, Medical University of Bialystok, Waszyngtona 15A, 15-269 Bialystok, Poland
Interests: cancer; central nervous system diseases; cerebrospinal fluid; cytokines; biomarker; inflammation markers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Understanding the intricacies of the varied diseases that affect the central nervous system (CNS) could undoubtedly enable their more effective management. This goal can be achieved through a multidisciplinary approach exploring the intricate interplay between biological, genetic, environmental, and lifestyle factors contributing to CNS disorders.

This Special Issue will cover the mechanisms underlying CNS diseases, identifying novel therapeutic strategies and diagnostic biomarkers. Thus, we invite studies that investigate the molecular pathways involved in CNS pathology, assess the efficacy of emerging treatments, explore potential biomarkers for early detection and monitoring, and examine the impacts of lifestyle interventions on disease progression and management. Additionally, studies of the role of neuroinflammation, neuronal plasticity, and neurodegeneration in CNS disorders, as well as investigations into personalized medicine approaches and the development of innovative diagnostic tools, are requested, as these studies help to advance our understanding and management of these complex conditions.

Dr. Olga Koper-Lenkiewicz
Dr. Joanna Kamińska
Guest Editors

Manuscript Submission Information

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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

  • central nervous system pathology
  • biological factors
  • genetic factors
  • environmental factors
  • lifestyle factors
  • therapeutic strategies
  • diagnostic biomarkers
  • molecular pathways
  • neuroinflammation

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Published Papers (8 papers)

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Research

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18 pages, 4374 KiB  
Article
Hepatocellular Carcinoma in Mice Affects Neuronal Activity and Glia Cells in the Suprachiasmatic Nucleus
by Mona Yassine, Soha A. Hassan, Lea Aylin Yücel, Fathima Faiba A. Purath, Horst-Werner Korf, Charlotte von Gall and Amira A. H. Ali
Biomedicines 2024, 12(10), 2202; https://doi.org/10.3390/biomedicines12102202 - 27 Sep 2024
Viewed by 1467
Abstract
Background: Chronic liver diseases such as hepatic tumors can affect the brain through the liver–brain axis, leading to neurotransmitter dysregulation and behavioral changes. Cancer patients suffer from fatigue, which can be associated with sleep disturbances. Sleep is regulated via two interlocked mechanisms: [...] Read more.
Background: Chronic liver diseases such as hepatic tumors can affect the brain through the liver–brain axis, leading to neurotransmitter dysregulation and behavioral changes. Cancer patients suffer from fatigue, which can be associated with sleep disturbances. Sleep is regulated via two interlocked mechanisms: homeostatic regulation and the circadian system. In mammals, the hypothalamic suprachiasmatic nucleus (SCN) is the key component of the circadian system. It generates circadian rhythms in physiology and behavior and controls their entrainment to the surrounding light/dark cycle. Neuron–glia interactions are crucial for the functional integrity of the SCN. Under pathological conditions, oxidative stress can compromise these interactions and thus circadian timekeeping and entrainment. To date, little is known about the impact of peripheral pathologies such as hepatocellular carcinoma (HCC) on SCN. Materials and Methods: In this study, HCC was induced in adult male mice. The key neuropeptides (vasoactive intestinal peptide: VIP, arginine vasopressin: AVP), an essential component of the molecular clockwork (Bmal1), markers for activity of neurons (c-Fos), astrocytes (GFAP), microglia (IBA1), as well as oxidative stress (8-OHdG) in the SCN were analyzed by immunohistochemistry at four different time points in HCC-bearing compared to control mice. Results: The immunoreactions for VIP, Bmal1, GFAP, IBA1, and 8-OHdG were increased in HCC mice compared to control mice, especially during the activity phase. In contrast, c-Fos was decreased in HCC mice, especially during the late inactive phase. Conclusions: Our data suggest that HCC affects the circadian system at the level of SCN. This involves an alteration of neuropeptides, neuronal activity, Bmal1, activation of glia cells, and oxidative stress in the SCN. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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11 pages, 753 KiB  
Article
Differences between Tuberous Sclerosis Complex Patients with and without Epilepsy: The Results of a Quantitative Diffusion Tensor Imaging Study
by Anna B. Marcinkowska, Sergiusz Jóźwiak, Agnieszka Sabisz, Agnieszka Tarasewicz, Beata Rutkowska, Alicja Dębska-Ślizień and Edyta Szurowska
Biomedicines 2024, 12(9), 2061; https://doi.org/10.3390/biomedicines12092061 - 10 Sep 2024
Viewed by 933
Abstract
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease with a high incidence of epilepsy and damaging effects on cognitive development. To understand the mechanisms leading to abnormal cognitive development, diffusion tensor imaging (DTI) techniques have begun to be used in recent years. [...] Read more.
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease with a high incidence of epilepsy and damaging effects on cognitive development. To understand the mechanisms leading to abnormal cognitive development, diffusion tensor imaging (DTI) techniques have begun to be used in recent years. The present study is the first to investigate differences in the microstructure and integrity of white matter tracts in adult patients with TSC and with and without epilepsy. Method: A total of 37 patients with TSC (18 with epilepsy, median age 36 years; 19 without epilepsy, median age 35 years) without intellectual disability and autism spectrum disorder were included in the study. The control group (median age 34 years) comprised 37 individuals without psychiatric or neurodevelopmental disorders and neurological and cardiovascular diseases, diabetes, or addictions. A magnetic resonance imaging (MRI) DTI sequence was applied. Results: There were differences in the average values of DTI parameters between patients with TSC and epilepsy and patients with TSC but without epilepsy in five white matter bands. When comparing the average values of DTI parameters between patients with TSC and epilepsy and healthy controls, we found differences in 15 of 20 analysed white matter fibres. White matter tracts in patients with TSC and epilepsy had more abnormalities than in patients with TSC but without epilepsy. The former group presented abnormalities in longer white matter fibres, especially in the left hemisphere. However, the latter group presented abnormalities in more medial and shorter white matter fibres. Conclusion: This DTI study documents the changes in the brain white matter of patients with TSC associated with the presence of epilepsy. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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11 pages, 949 KiB  
Article
Are Sirtuins 1 and 2 Relevant Players in Relapsing–Remitting Multiple Sclerosis?
by Justyna Chojdak-Łukasiewicz, Anna Bizoń, Aleksandra Kołtuniuk, Marta Waliszewska-Prosół, Sławomir Budrewicz, Agnieszka Piwowar and Anna Pokryszko-Dragan
Biomedicines 2024, 12(9), 2027; https://doi.org/10.3390/biomedicines12092027 - 5 Sep 2024
Viewed by 2075
Abstract
SIRTs were demonstrated to play an important role in inflammatory, degenerative, and metabolic alterations, constituting the background of the central nervous system. Thus, they seem to be an appropriate object of investigation (as potential biomarkers of disease activity and/or novel therapeutic targets) in [...] Read more.
SIRTs were demonstrated to play an important role in inflammatory, degenerative, and metabolic alterations, constituting the background of the central nervous system. Thus, they seem to be an appropriate object of investigation (as potential biomarkers of disease activity and/or novel therapeutic targets) in multiple sclerosis (MS), which has a complex etiology that comprises a cross-talk between all these processes. The aim of this study was to evaluate the levels of SIRT1 and SIRT2 in the serum of patients with the relapsing–remitting type of MS (RRMS), as well as their relationships with various aspects of MS-related disability. Methods: A total of 115 patients with RRMS (78 women, 37 men, mean age 43 ± 9.9) and 39 healthy controls were included in the study. SIRT1 and SIRT2 were detected in the serum using the enzyme-linked immunoassay (ELISA) method. In the RRMS group, relationships were investigated between the SIRT 1 and 2 levels and the demographic data, MS-related clinical variables, and the results of tests evaluating fatigue, sleep problems, cognitive performance, autonomic dysfunction, and depression. Results: The levels of SIRT1 and SIRT2 in RRMS patients were significantly lower than in the controls (11.14 vs. 14. 23, p = 0.04; 8.62 vs. 14.2, p < 0.01). In the RRMS group, the level of both SIRTs was higher in men than in women (15.7 vs. 9.0; 11.3 vs. 7.3, p = 0.002) and showed a significant correlation with the degree of disability (R = −0.25, p = 0.018). No other relationships were found between SIRT levels and the analyzed data. Conclusions: The serum levels of SIRT1 and 2 were decreased in the RRMS patients (especially in the female ones) and correlated with the degree of neurological deficit. The role of SIRTs as biomarkers of disease activity or mediators relevant for “invisible disability” in MS warrants further investigation. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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Review

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19 pages, 7537 KiB  
Review
Bacterial Meningoencephalitis in Newborns
by Alessia Guarnera, Giulia Moltoni, Francesco Dellepiane, Giulia Lucignani, Maria Camilla Rossi-Espagnet, Francesca Campi, Cinzia Auriti and Daniela Longo
Biomedicines 2024, 12(11), 2490; https://doi.org/10.3390/biomedicines12112490 - 30 Oct 2024
Viewed by 1324
Abstract
Bacterial meningoencephalitis in newborns is a severe and life-threatening pathology, which results from meningeal infection and the subsequent involvement of the brain parenchyma. The severity of the acute onset of symptoms and the risk of neurodevelopmental adverse sequelae in children strongly depend on [...] Read more.
Bacterial meningoencephalitis in newborns is a severe and life-threatening pathology, which results from meningeal infection and the subsequent involvement of the brain parenchyma. The severity of the acute onset of symptoms and the risk of neurodevelopmental adverse sequelae in children strongly depend on the timing of the infection, the immunological protection transmitted by the mother to the fetus during pregnancy, and the neonate’s inflammatory and immune system response after birth. Although the incidence of neonatal meningitis and meningoencephalitis and related mortality declined in the past twenty years with the improvement of prenatal care and with the introduction of intrapartum antibiotic prophylaxis against Streptococcus beta Hemolyticus group B (Streptococcus Agalactiae) in the 1990s, bacterial meningitis remains the most common form of cerebrospinal fluid infection in pediatric patients. To date, the rate of unfavorable neurological outcomes is still from 20% to 60%, and the possibility of containing its rate strongly depends on early diagnosis, therapy, and a multidisciplinary approach, which involves neonatologists, neurologists, neuroradiologists, and physiotherapists. Neonatal meningitis remains difficult to diagnose because the responsible bacteria vary with gestational age at birth, age at presentation, and environmental context. The clinical presentation, especially in the newborn, is very ambiguous. From a clinical point of view, the definitive test for diagnosis is lumbar puncture in patients with symptoms suggestive of neurological involvement. Therefore, neuroimaging is key for raising clinical suspicion of meningitis or corroborating the diagnosis based on clinical and laboratory data. Our pictorial review offers a practical approach to neonatal meningoencephalitis by describing the epidemiology, the pathophysiology of bacterial meningoencephalitis, defining the indications and suggesting optimized protocols for neuroimaging techniques, and showing the main neuroimaging findings to reach the diagnosis and offering proper follow-up of bacterial meningitis. Moreover, we tried identifying some peculiar MRI patterns related to some bacteria. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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16 pages, 814 KiB  
Review
Microbiota Orchestra in Parkinson’s Disease: The Nasal and Oral Maestros
by Nádia Rei, Miguel Grunho, José João Mendes and Jorge Fonseca
Biomedicines 2024, 12(11), 2417; https://doi.org/10.3390/biomedicines12112417 - 22 Oct 2024
Cited by 1 | Viewed by 1456
Abstract
Parkinson’s disease (PD) is characterized by the progressive degeneration of dopaminergic neurons, leading to a range of motor and non-motor symptoms. Background/Objectives: Over the past decade, studies have identified a potential link between the microbiome and PD pathophysiology. The literature suggests that specific [...] Read more.
Parkinson’s disease (PD) is characterized by the progressive degeneration of dopaminergic neurons, leading to a range of motor and non-motor symptoms. Background/Objectives: Over the past decade, studies have identified a potential link between the microbiome and PD pathophysiology. The literature suggests that specific bacterial communities from the gut, oral, and nasal microbiota may be involved in neuroinflammatory processes, which are hallmarks of PD. This review aims to comprehensively analyze the current research on the composition, diversity, and dysbiosis characteristics of the nasal and oral microbiota in PD. Methods: Through a comprehensive search across scientific databases, we identify twenty original studies investigating the nasal and oral microbiota in PD. Results: Most of these studies demonstrate the substantial roles of bacterial communities in neuroinflammatory pathways associated with PD progression. They also underscore the influences of microbiota-derived factors on key aspects of PD pathology, including alpha-synuclein aggregation and immune dysregulation. Conclusions: Finally, we discuss the potential diagnostic and therapeutic implications of modulating the nasal and oral microbiota in PD management. This analysis seeks to identify potential avenues for future research in order to clarify the complex relationships between these microorganisms and PD. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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10 pages, 456 KiB  
Review
The Role of the Cerebellum in Advanced Cognitive Processes in Children
by Stefano Mastrangelo, Laura Peruzzi, Antonella Guido, Laura Iuvone, Giorgio Attinà, Alberto Romano, Palma Maurizi, Daniela Pia Rosaria Chieffo and Antonio Ruggiero
Biomedicines 2024, 12(8), 1707; https://doi.org/10.3390/biomedicines12081707 - 1 Aug 2024
Cited by 2 | Viewed by 4124
Abstract
Over the last several years, a growing body of evidence from anatomical, physiological, and functional neuroimaging studies has increasingly indicated that the cerebellum is actively involved in managing higher order cognitive functions and regulating emotional responses. It has become clear that when children [...] Read more.
Over the last several years, a growing body of evidence from anatomical, physiological, and functional neuroimaging studies has increasingly indicated that the cerebellum is actively involved in managing higher order cognitive functions and regulating emotional responses. It has become clear that when children experience congenital or acquired cerebellar lesions, these injuries can lead to a variety of cognitive and emotional disorders, manifesting in different combinations. This underscores the cerebellum’s essential role not only throughout developmental stages but particularly in facilitating learning processes, highlighting its critical importance beyond its traditional association with motor control. Furthermore, the intricate neural circuits within the cerebellum are believed to contribute to the fine-tuning of motor actions and coordination but are also increasingly recognized for their involvement in cognitive processes such as attention, language, and problem solving. Recent research has highlighted the importance of cerebellar health and integrity for optimal functioning across various domains of the human experience. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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Other

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9 pages, 3029 KiB  
Case Report
Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report
by Francesco Dellepiane, Giulia Moltoni, Sara Ronci, Alessia Guarnera, Maria Camilla Rossi-Espagnet, Maria Cristina Digilio, Diego Martinelli, Francesca Campi and Daniela Longo
Biomedicines 2024, 12(12), 2779; https://doi.org/10.3390/biomedicines12122779 - 6 Dec 2024
Viewed by 825
Abstract
The glycosylphosphatidylinositol (GPI) is a glycol–lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family [...] Read more.
The glycosylphosphatidylinositol (GPI) is a glycol–lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children. Among them, the PIGO gene encodes for phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO), an enzyme participating in this cascade, and the loss of its function often leads to a severe clinical picture characterized by global developmental delay, seizures, Hirschsprung disease, and other congenital malformations. To date, 19 patients with confirmed PIGO deficiency have been described in the literature with a host of clinical and radiological manifestations. We report a case of a male term newborn with two compound heterozygous variants of the PIGO genes, presenting with encephalopathy, drug-resistant epilepsy, and gastrointestinal abnormalities. Brain MRI first showed diffusion restriction in the ponto-medullary tegmentum, ventral mesencephalon, superior cerebellar peduncles, cerebral peduncles, and globi pallidi. This pattern of lesion distribution has been described as part of the neuroradiological spectrum of PIG genes-related disorders. However, after one month of life, he also showed a previously undescribed MRI pattern characterized by extensive cortical and subcortical involvement of the brain hemispheres. The presence of two different mutations in both the PIGO genes may have been responsible for the particularly severe clinical picture and worse outcome, leading to the death of the newborn in the sixth month of life despite therapeutic attempts. This case expands the neuroradiological spectrum and may bring new insights on glycosylation-related disorders brain manifestations. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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23 pages, 3203 KiB  
Perspective
The Importance of Including Maternal Immune Activation in Animal Models of Hypoxic–Ischemic Encephalopathy
by Bailey Collins, Elise A. Lemanski and Elizabeth Wright-Jin
Biomedicines 2024, 12(11), 2559; https://doi.org/10.3390/biomedicines12112559 - 8 Nov 2024
Viewed by 1248
Abstract
Hypoxic–ischemic encephalopathy (HIE) is a perinatal brain injury that is the leading cause of cerebral palsy, developmental delay, and poor cognitive outcomes in children born at term, occurring in about 1.5 out of 1000 births. The only proven therapy for HIE is therapeutic [...] Read more.
Hypoxic–ischemic encephalopathy (HIE) is a perinatal brain injury that is the leading cause of cerebral palsy, developmental delay, and poor cognitive outcomes in children born at term, occurring in about 1.5 out of 1000 births. The only proven therapy for HIE is therapeutic hypothermia. However, despite this treatment, many children ultimately suffer disability, brain injury, and even death. Barriers to implementation including late diagnosis and lack of resources also lead to poorer outcomes. This demonstrates a critical need for additional treatments for HIE, and to facilitate this, we need translational models that accurately reflect risk factors and interactions present in HIE. Maternal or amniotic infection is a significant risk factor and possible cause of HIE in humans. Maternal immune activation (MIA) is a well-established model of maternal infection and inflammation that has significant developmental consequences largely characterized within the context of neurodevelopmental disorders such as autism spectrum disorder and schizophrenia. MIA can also lead to long-lasting changes within the neuroimmune system, which lead to compounding negative outcomes following a second insult. This supports the importance of understanding the interaction of maternal inflammation and hypoxic–ischemic outcomes. Animal models have been invaluable to understanding the pathophysiology of this injury and to the development of therapeutic hypothermia. However, each model system has its own limitations. Large animal models such as pigs may more accurately represent the brain and organ development and complexity in humans, while rodent models are more cost-effective and offer more possible molecular techniques. Recent studies have utilized MIA or direct inflammation prior to HIE insult. Investigators should thoughtfully consider the risk factors they wish to include in their HIE animal models. In the incorporation of MIA, investigators should consider the type, timing, and dose of the inflammatory stimulus, as well as the timing, severity, and type of hypoxic insult. Using a variety of animal models that incorporate the maternal–placental–fetal system of inflammation will most likely lead to a more robust understanding of the mechanisms of this injury that can guide future clinical decisions and therapies. Full article
(This article belongs to the Special Issue Understanding Diseases Affecting the Central Nervous System)
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