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Topic Review
DNA Damage-Induced Neurodegeneration
DNA repair ensures genomic stability to achieve healthy ageing, including cognitive maintenance. Mutations on genes encoding key DNA repair proteins can lead to diseases with accelerated ageing phenotypes. Some of these diseases are xeroderma pigmentosum group A (XPA, caused by mutation of XPA), Cockayne syndrome group A and group B (CSA, CSB, and are caused by mutations of CSA and CSB, respectively), ataxia-telangiectasia (A-T, caused by mutation of ATM), and Werner syndrome (WS, with most cases caused by mutations in WRN). Except for WS, a common trait of the aforementioned progerias is neurodegeneration. Evidence from studies using animal models and patient tissues suggests that the associated DNA repair deficiencies lead to depletion of cellular nicotinamide adenine dinucleotide (NAD+), resulting in impaired mitophagy, accumulation of damaged mitochondria, metabolic derailment, energy deprivation, and finally leading to neuronal dysfunction and loss. Intriguingly, these features are also observed in Alzheimer's disease (AD), the most common type of dementia affecting more than 50 million individuals worldwide. Further studies on the mechanisms of the DNA repair deficient premature ageing diseases will help to unveil the mystery of ageing and may provide novel therapeutic strategies for AD.
  • 881
  • 13 Jul 2021
Topic Review
Dysregulation of astrocytes in AD
Recent studies implicate astrocytes in Alzheimer’s disease (AD); however, their role in pathogenesis is poorly understood. Astrocytes have well-established functions in supportive functions such as extracellular ionic homeostasis, structural support, and neurovascular coupling. However, emerging research on astrocytic function in the healthy brain also indicates their role in regulating synaptic plasticity and neuronal excitability via the release of neuroactive substances named gliotransmitters. Here, we review how this “active” role of astrocytes at synapses could contribute to synaptic and neuronal network dysfunction and cognitive impairment in AD.
  • 881
  • 22 Sep 2021
Topic Review
Circulating Cytokines and Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that has no effective treatment. The lack of any specific biomarker that can help in the diagnosis or prognosis of ALS has made the identification of biomarkers an urgent challenge. Multiple panels have shown alterations in levels of numerous cytokines in ALS, supporting the contribution of neuroinflammation to the progressive motor neuron loss. 
  • 876
  • 10 Jan 2022
Topic Review
Blue Light Blocking for Bipolar Disorder
Light is by definition the electromagnetic radiation that corresponds to the perceptual limit of human eyesight. Light, being a form of electromagnetic radiation, is transmitted as a wave of energy particles from its source to the receiver, the human eye. A beam of light has a specific frequency, wavelength and energy. Frequency is measured in hertz (Hz), with one Hz corresponding to a wave passing a fixed point per second. The distance between two corresponding points of two consecutive waves is the wavelength and it is measured in meters. The energy that propagates with a particular beam of light is measured in photons, a hypothetical particle that corresponds to the smallest quantity of light energy at the given wavelength. The energy of a photon is thus variable, proportional to the frequency of the beam of light, inversely proportional to its wavelength, and expressed in electron volts (eV). Recently, following empirical findings, a few clinical studies have focused on the therapeutic potential for blue-light blocking in bipolar disorder (BD), reporting promising results.
  • 875
  • 18 Mar 2022
Topic Review
Quantitative EEG in Consciousness Disorders
The role of quantitative EEG technology in the diagnosis and prognosis of patients with unresponsive wakefulness syndrome and minimally conscious state.
  • 874
  • 18 Jun 2021
Topic Review
Neurobehavioral Phenotype and Dysexecutive Syndrome of Preterm Children
The neurodevelopmental outcome of the premature infant is characterized by a set of minor-to-moderate dysfunctions in the developmental fields (language, praxis, executive, behavioral and attention disorders, social interaction disorders, etc.). These dysfunctions tend to cumulate, even to potentiate, which impacts school learning and the daily life of these children and their parents. Executive functions, such as high-level cognitive operations, play a preponderant role in learning and social adaptation via the regulation of children’s behavior and emotions. Thus, the notion of executive dysfunctions as an underlying mechanism of neurodevelopmental difficulties in VP children is now well documented. Executive deficit is central to the neurodevelopmental phenotype of preterm infants and their learning difficulties, both from a cognitive and a behavioral or social point of view.
  • 874
  • 25 Mar 2022
Topic Review
Neurodegeneration, Mitochondria, and Antibiotics
Neurodegenerative diseases are characterized by the progressive loss of neurons, synapses, dendrites, and myelin in the central and/or peripheral nervous system. Actual therapeutic options for patients are scarce and merely palliative. Although they affect millions of patients worldwide, the molecular mechanisms underlying these conditions remain unclear. Mitochondrial dysfunction is generally found in neurodegenerative diseases and is believed to be involved in the pathomechanisms of these disorders. Although mitochondrial-targeted treatments are limited, new research findings have unraveled the therapeutic potential of several groups of antibiotics. These drugs possess pleiotropic effects beyond their anti-microbial activity, such as anti-inflammatory or mitochondrial enhancer function. The controversial use of antibiotics as potential therapies in neurodegenerative diseases will be discussed.
  • 873
  • 27 Mar 2023
Topic Review
Potential of Cannabinoids in Multiple Sclerosis
Multiple sclerosis is the predominant autoimmune disorder affecting the central nervous system in adolescents and adults. Specific treatments are categorized as disease-modifying, whereas others are symptomatic treatments to alleviate painful symptoms. No singular conventional therapy is universally effective for all patients across all stages of the illness. Nevertheless, cannabinoids exhibit significant promise in their capacity for neuroprotection, anti-inflammation, and immunosuppression. 
  • 873
  • 28 Feb 2024
Topic Review
Fibrin Glue and MSCs to Regenerate Nerve Injuries
Cell-based therapy is a promising treatment to favor tissue healing through less invasive strategies. Mesenchymal stem cells (MSCs) highlighted as potential candidates due to their angiogenic, anti-apoptotic and immunomodulatory properties, in addition to their ability to differentiate into several specialized cell lines. Cells can be carried through a biological delivery system, such as fibrin glue, which acts as a temporary matrix that favors cell-matrix interactions and allows local and paracrine functions of MSCs. MSCs favored axonal regeneration, remyelination of nerve fibers, as well as promoted an increase in the number of myelinated fibers, myelin sheath thickness, number of axons and expression of growth factors, with significant improvement in motor function recovery. Fibrin glue combined with MSCs has the potential to regenerate nervous system lesions.
  • 872
  • 24 Jan 2022
Topic Review
Ticagrelor Resistance in Cardiovascular Disease and Ischemic Stroke
Ticagrelor, acting as a reversible platelet aggregation inhibitor of P2Y12 receptors (P2Y12R), is regarded as one of the first-line antiplatelet drugs for acute cardiovascular diseases. Though the probability of ticagrelor resistance is much lower than that of clopidogrel, there have been recent reports of ticagrelor resistance.
  • 872
  • 13 Feb 2023
Topic Review
Gut Microbiota Affect Neurogenesis
Adult neurogenesis (i.e., the life-long generation of new neurons from undifferentiated neuronal precursors in the adult brain) may contribute to brain repair after damage, and participates in plasticity-related processes including memory, cognition, mood and sensory functions. Among the many intrinsic (oxidative stress, inflammation, and ageing), and extrinsic (environmental pollution, lifestyle, and diet) factors deemed to impact neurogenesis, significant attention has been recently attracted by the myriad of saprophytic microorganismal communities inhabiting the intestinal ecosystem and collectively referred to as the gut microbiota. 
  • 870
  • 27 Jan 2022
Topic Review
Multi-Omic Blood Biomarkers in Late-Onset Alzheimer’s Disease
Late-onset Alzheimer’s disease is the leading cause of dementia worldwide, accounting for a growing burden of morbidity and mortality. Diagnosing Alzheimer’s disease before symptoms are established is clinically challenging, but would provide therapeutic windows for disease-modifying interventions. Blood biomarkers, including genetics, proteins and metabolites, are emerging as powerful predictors of Alzheimer’s disease at various timepoints within the disease course, including at the preclinical stage.
  • 870
  • 08 Feb 2024
Topic Review
Neurodegeneration by the Italian Proteomics Community
The growing number of patients affected by neurodegenerative disorders represents a huge problem for healthcare systems, human society, and economics. In this context, omics strategies are crucial for the identification of molecular factors involved in disease pathobiology, and for the discovery of biomarkers that allow early diagnosis, patients’ stratification, and treatment response prediction. The integration of different omics data is a required step towards the goal of personalized medicine. The Italian proteomics community is actively developing and applying proteomics approaches to the study of neurodegenerative disorders; moreover, it is leading the mitochondria-focused initiative of the Human Proteome Project, which is particularly important given the central role of mitochondrial impairment in neurodegeneration. 
  • 869
  • 04 Oct 2022
Topic Review
Pluripotent Stem Cells for Spinal Cord Injury Repair
Spinal cord injury (SCI) is a devastating condition of the central nervous system that strongly reduces the patient’s quality of life and has large financial costs for the healthcare system. Cell therapy has shown considerable therapeutic potential for SCI treatment in different animal models. Although many different cell types have been investigated with the goal of promoting repair and recovery from injury, stem cells appear to be the most promising.
  • 868
  • 10 Dec 2021
Topic Review
Group-I-mGluRs and Microglia in CNS: Focus on ALS
Microglia cells are the resident immune cells of the central nervous system. They act as the first-line immune guardians of nervous tissue and central drivers of neuroinflammation. Any homeostatic alteration that can compromise neuron and tissue integrity could activate microglia. 
  • 868
  • 03 Apr 2023
Topic Review
Functional Neurological Symptom Disorder
A functional neurological disorder (FND) is a condition in which patients experience neurological symptoms such as weakness, movement disorders, sensory symptoms and blackouts. In the past, the brain of a patient with functional neurological symptom disorder was believed to be structurally normal, but functioning incorrectly. Patients with FND were marginalized for much of the 20th century, with limited clinical and neuroscientific interest. Converging evidence from several studies using different techniques and paradigms has now demonstrated distinctive brain activation patterns associated with functional deficits, unlike those seen in actors simulating similar deficits.  New research has uncovered pathways in the brain’s white matter that may be altered in patients with functional neurological disorder (FND). The new findings advance current understanding of the mechanisms involved in this disease, and offer the possibility of identifying markers of the condition and patients’ prognosis. Historically, other terms have been used to describe these symptoms. Symptoms of functional neurological disorders are clinically recognisable, but are not categorically associated with a definable organic disease. The intended contrast is with an organic brain syndrome, although the terms imply a level of certainty about causation that is often clinically unconfirmed. Subsets of functional neurological disorders include functional neurological symptom disorder (FNsD), conversion disorder, and psychogenic movement disorder/non-epileptic seizures. Functional neurological disorders are common in neurological services, accounting for up to one third of outpatient neurology clinic attendances, and associated with as much physical disability and distress as other neurological disorders. The diagnosis is made based on positive signs and symptoms in the history and examination during consultation of a neurologist (see below). Physiotherapy is particularly helpful for patients with motor symptoms (weakness, gait disorders, movement disorders) and tailored cognitive behavioural therapy has the best evidence in patients with dissociative (non-epileptic) attacks.
  • 867
  • 21 Nov 2022
Topic Review
Microbiome and Psychedelic Interaction
The psychedelic renaissance has reignited interest in the therapeutic potential of psychedelics for mental health and well-being. An emerging area of interest is the potential modulation of psychedelic effects by the gut microbiome—the ecosystem of microorganisms in our digestive tract. The human gut microbiome profoundly influences our health and well-being, not only in terms of physical health but also as a modulator of brain function and behavior, including mood, cognition, and stress responses. With the ongoing psychedelic renaissance exploring the therapeutic potentials of psychedelic substances like psilocybin, lysergic acid diethylamide (LSD), and ayahuasca, it is essential to consider the role of the gut microbiome in this narrative.
  • 866
  • 14 Aug 2023
Topic Review
Genetic and Metabolic Investigations in Children with GDD/ID
Global Developmental Delay (GDD) and Intellectual Disability (ID) are two of the most common presentations encountered by physicians taking care of children. GDD/ID is classified into non-syndromic GDD/ID, where GDD/ID is the sole evident clinical feature, or syndromic GDD/ID, where there are additional clinical features or co-morbidities present. Careful evaluation of children with GDD and ID, starting with detailed history followed by a thorough examination, remain the cornerstone for etiologic diagnosis, however, when initial history and examination fail to identify a probable underlying etiology, further genetic testing is warranted.
  • 865
  • 12 Apr 2023
Topic Review
Matrix Metalloproteinases in Neurodegenerative Diseases
Neurodegenerative disorders/diseases (NDs) are a chronic debilitating group of heterogeneous diseases, which include loss of neuronal function and structure, leading to neuronal cell death or progressive degeneration. NDs comprise a highly complex etiology that is mainly associated with abnormal protein accumulation, mutated genes, increased reactive oxygen species (ROS), neuroinflammation, mitochondrial dysfunction, apoptosis, elevated endoplasmic reticulum (ER), calcium overload, excitotoxicity, or neuronal destruction in specific regions of the brain. ND is a wide array of neurological disorders that generally affect central nervous system (CNS) neurons, characterized by progressive neuronal dysfunction in the CNS, resulting in deficit of specific functions of the brain (movement, memory, and cognition). These processes are involved in the pathogenesis and progression of NDs, such as Huntington’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis, multiple sclerosis, and Parkinson’s disease.
  • 863
  • 12 May 2021
Topic Review
Focal Cortical Dysplasia in Tuberous Sclerosis Complex
Patients with tuberous sclerosis complex present with cognitive, behavioral, and psychiatric impairments, such as intellectual disabilities, autism spectrum disorders, and drug-resistant epilepsy. It has been shown that these disorders are associated with the presence of cortical tubers. Tuberous sclerosis complex results from inactivating mutations in the TSC1 or TSC2 genes, resulting in hyperactivation of the mechanistic target of rapamycin (mTOR) signaling pathway, which regulates cell growth, proliferation, survival, and autophagy. TSC1 and TSC2 are classified as tumor suppressor genes and function according to Knudson’s two-hit hypothesis, which requires both alleles to be damaged for tumor formation. However, a second-hit mutation is a rare event in cortical tubers. This suggests that the molecular mechanism of cortical tuber formation may be more complicated and requires further research.
  • 861
  • 25 Jun 2023
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