Maria C Anagnostouli

National and Kapodistrian University of Athens | uoa · Division of Neurology I

The coexistence of bipolar disorder (BD) and multiple sclerosis (MS) is well known. Manic symptoms may represent initial symptoms of MS, at least in some cases, and follow the MS-HLA phenotype frequencies. The purpose of this study was to examine the possible relation of BD and MS based on an HLA family study of a woman with BD and comorbid MS, wit...

To analyse biotin concentrations in human cerebrospinal fluid (CSF) and serum from controls without evidence of nutritional or neurological disorders and patients with common neurological disorders. Cerebrospinal fluid was obtained from patients by lumbar puncture, serum was prepared from freshly drawn whole blood and biotinidase in samples was inh...

During the last decades, the effort of establishing satisfactory biomarkers for multiple sclerosis has been proven to be very difficult, due to the clinical and pathophysiological complexities of the disease. Recent knowledge acquired in the domains of genomics-immunogenetics and neuroimmunology, as well as the evolution in neuroimaging, has provid...

Background Multiple sclerosis (MS) patients have a low general cancer risk and cases of neoplastic comorbidity are attributed by many researchers in chance, or therapeutical side-effects. Human Leucocyte Antigen (HLA) class II allele DRB1*15:01 is considered the main genetic factor independently associated with increased susceptibility for MS in Ca...

Studies in many populations consistently have showed that the human leukocyte antigens (HLA) and especially the DRB1 * 15 allele has by far the strongest genetic association with multiple sclerosis (MS). The aim of this study was to investigate the role of HLA-DRB1 * alleles in MS risk/resistance and onset. A sample of 165 Hellenic MS patients (18...

Multiple sclerosis (MS) and its various comorbidities that may be observed are of great interest due to the complexity of MS pathophysiology and all of the immunological changes that follow. The incidence of cancer in MS has been investigated for several years, as not only does it affect ongoing therapeutical decisions, but also, certain disease-mo...

Objectives Long-term immunomodulatory therapy of pediatric onset-multiple sclerosis (POMS) is based mainly on published case series and internationally agreed guidelines. Relevant studies in the Greek population are absent from the literature. The purpose of this study is to present data on the efficacy and safety of the 1st line immunomodulatory d...

Pediatric-onset multiple sclerosis (MS, POMS) accounts for 3–5% of all MS cases and is characterized by a highly inflammatory profile, often warranting treatment with high-efficacy agents. Our aim is to present real-world data of a series of 18 Hellenic POMS patients treated with natalizumab (NTZ) either as adolescents or as adults, after high dise...

Citation: Vakrakou, A.G.; Alexaki, A.; Brinia, M.-E.; Anagnostouli, M.; Stefanis, L.; Stathopoulos, P. The mTOR Signaling Pathway in Multiple Sclerosis; from Animal Models to Human Data. Int. J. Mol. Sci. 2022, 23, 8077. https://doi.

The exact immunopathogenesis, genetic mechanisms and triggering factors underlying Myasthenia Gravis (MG) and Neuromyelitis Optica (NMO) remain unknown, the coexistence may underline an aetiopathogenetic link between these two diseases. We report the cases of two thymectomized patients with acetylcholine receptor (AChR) antibody (Ab)-positive MG wh...

Background Hereditary angioedema (HAE) related to C1 esterase-inhibitor deficiency activates the classic complement pathway and results to edematous crises. Although HAE is usually associated with multiple immunoregulatory disorders, neurologic manifestations are rare. Case Report We report on the case study of a 33-year-old man diagnosed with HAE...

110 111 ⩒ ⩒ THE DOCTOR / ΟΚΤ-ΔΕΚ 2021 ⩒ ⩒ ΔΡΑΣΕΙΣ ΥΓΕΙΑΣ ΔΡΑΣΕΙΣ ΥΓΕΙΑΣ Η παιδιατρική ΠΣ (Paediatric Onset Multiple Sclerosis, POMS) αφορά περίπου στο 3-5% του συνόλου των πασχόντων από ΠΣ και θεω-ρείται ένα σπάνιο επίκτητο απομυελινωτι-κό νόσημα, με αυξητική ωστόσο συχνότητα, όπως και η νόσος των ενηλίκων. Mόλις την τελευταία 15ετία έλαβε η μορφή...

Creativity, art and artistic creation in music, dance and visual arts are brain activities specific to humans. Their genetic background remained unexplored for years, but many recent studies have uncovered significant associations with cognition-related genes and loci. These studies are summarized in the present article. Creativity is a trait w...

Background Pediatric onset multiple sclerosis(POMS) is characterized by a highly active profile, often warranting treatment with high efficacy disease-modulating therapies (DMTs). Fingolimod, an oral sphingosine-1-phosphate receptor modulator, is the first Food and Drug Administration (FDA)- and European Medicines Agency (EMA)-approved DMT for the...

We aimed to determine whether Alemtuzumab-induced immune reconstitution affects immunoglobulin and complement levels in the serum of Relapsing-Remitting Multiple Sclerosis (RRMS) patients. IgG4-levels were increased 24-months after treatment initiation compared to baseline levels in twenty-nine patients. Alemtuzumab-treated patients with the highes...

Background Cortical demyelination and meningeal inflammation have been detected neuropathologically in multiple sclerosis (MS) and recently in myelin oligodendrocyte glycoprotein antibody disease (MOGAD). Objectives To assess in vivo cortical and leptomeningeal involvement in MOGAD. Methods We prospectively evaluated 11 MOGAD and 12 relapsing-rem...

Objective Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system affecting patients’ well-being and quality of life. Pythagorean Self-Awareness Intervention (PSAI) is a novel non-pharmaceutical intervention with significant benefits both in MS and other chronic diseases. In this study, the longstanding effectiveness of PSAI...

Paraneoplastic cerebellar ataxia is a rare immune-induced, non-metastatic neurologic syndrome, most frequently associated with gynecological cancers, which carries an abysmal prognosis. We report the case of a patient with advanced-stage uterine cancer, who developed severe pancerebellar ataxia, while in partial remission, after the completion of 3...

Aims Our goal was to expand the spectrum of clinico-radiologic characteristics and the possible therapeutic choices in patients with tumefactive demyelinating lesions (TDLs). Methods A retrospective analysis of 50 patients with at least one TDL was performed at an academic neurology center (2008–2020). Results Our cohort comprised mostly women (3...

Alemtuzumab, a humanized anti-CD52 monoclonal antibody, is approved for the treatment of highly active relapsing-remitting multiple sclerosis (MS). The principal adverse effect is the development of secondary autoimmune disorders during the immune reconstitution period after alemtuzumab, with autoimmune thyroid disease (AITD) being the most common....

Stress has deleterious effects on brain health and yet, the prognostic value of psychosocial stress regarding the most common types of dementias, including Alzheimer disease, is still unclear. The primary aim of this systematic review was to explore the association between psychosocial stress and late onset dementia. We classified 24articles from M...

Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS). Myeloid lineage cells (microglia and macrophages) may participate in the pathogenic mechanisms leading to MS. CD33 is a transmembrane receptor, mainly expressed by myeloid lineage cells. CD33 rs3865444 is a promoter variant previously associated with Alzh...

Background Baló’s Concentric Sclerosis (BCS) is a rare heterogeneous demyelinating disease with a variety of phenotypes on Magnetic Resonance Imaging (MRI). Existing literature lacks data especially on the therapeutic approach of the disease which we intended to elucidate by means of suggesting a new possible BCS classification and introducing diff...

CNS autoantigens conjugated to oxidized mannan (OM) induce antigen-specific T cell tolerance and protect mice against autoimmune encephalomyelitis (EAE). To investigate whether OM-peptides treat EAE initiated by human MHC class II molecules, we administered OM-conjugated murine myelin oligodendrocyte glycoprotein peptide 35-55 (OM-MOG) to humanized...

Purpose The comorbidity of myasthenia gravis (MG), with other autoimmune disorders like systemic lupus erythematosus (SLE), is relatively frequent but the co-occurrence with chronic inflammatory demyelinating polyneuropathy (CIDP) along with various autoimmune manifestations in the absence of thymoma is of extreme rarity. Our aim is to report a cas...

Objective Colloid cysts of the third ventricle are benign intracranial tumors. They are most commonly presented with signs of intracranial hypertension due to obstructive hydrocephalus, including headache, nausea/vomiting and vision disturbances, whereas extrapyramidal symptoms such as tremor are very rare. Sudden death, due to abruptly developed h...

Multiple Sclerosis and the other autoimmune demyelinating diseases of the Central Nervous System often coexist with malignancies and other autoimmune diseases. This fact makes difficult the therapeutic decision making and the whole condition managing, escecially at the COVID-19 era.

Background: Human Leucocyte Antigens (HLA) represent the genetic loci most strongly linked to Multiple Sclerosis (MS). Apart from HLA-DR and HLA-DQ, HLA-DP alleles have been previously studied regarding their role in MS pathogenesis, but to a much lesser extent. Our objective was to investigate the risk/resistance influence of HLA-DPB1 alleles in H...

Multiple sclerosis (MS) is a multifactorial, chronic, immune-mediated, and neurodegenerative disease, having a well-known hypothalamic-pituitary-adrenal (HPA) axis dysfunction. Several hormones have a great impact in the immune dysregulation, psychology, and cognitive status of patients with MS, as also in the fertility and response to treatment. I...

Atypical forms of demyelinating diseases with tumor-like lesions and aggressive course represent a diagnostic and therapeutic challenge for neurologists. Herein, we describe a 50-year-old woman presenting with subacute onset of left hemiparesis, memory difficulties and headache. Brain MRI revealed a tumefactive right frontal-parietal lesion with pe...

Background Numerous cross-sectional studies report cognitive impairment in multiple sclerosis (MS), but longitudinal studies with sufficiently long-term follow-up are scarce.Objective We aimed to investigate the cognitive 10-year course of a cohort of MS patients.Methods59 patients with clinically isolated syndrome (CIS) or relapsing–remitting (RR)...

Background: Pediatric-onset multiple sclerosis (POMS) is considered a complex disease entity with many genetic and environmental factors implicated in its pathogenesis. Linkage studies in Caucasian adult populations consistently demonstrate the major histocompatibility complex and its HLA (human leukocyte antigen) polymorphisms as the genetic locu...

IgG4-related disease (IgG4-RD) is a disorder with various clinical manifestations. Central nervous system (CNS) involvement is well recognized, with hypertrophic pachymeningitis and hypophysitis being the most common manifestations. Spinal cord involvement is an extremely rare manifestation. We present the first case of an IgG4-RD patient with spin...

IgG antibodies to myelin oligodendrocyte glycoprotein (MOG) detected by cell based assays (CBA) have been identified in a constantly expanding spectrum of CNS demyelinating disorders. However, a universally accepted CBA has not been adopted yet. We aimed to analyze the clinical and radiological features of patients with anti-MOG IgG1-antibodies det...

Background: IgG antibodies to conformational epitopes of myelin oligodendrocyte glycoprotein (MOG) have been detected in a broad spectrum of CNS demyelinating disorders. However, a universal assay has not been adopted yet. Objective: To analyze the phenotype of patients with anti-MOG IgG1 antibodies detected with a live cell based assay, CBA, from...

Melatonin is a neurohormone mainly produced by the pineal gland following a circadian rhythm. It is characterized as a pleiotropic factor because it not only regulates the wake–sleep rhythm but also exerts antinociceptive, antidepressant, anxiolytic, and immunomodulating properties. Recent studies suggest that dysregulation of melatonin secretion i...

A wide spectrum of topics regarding Multiple Sclerosis (MS) have been thoroughly studied, like immunology, nature of demyelinating lesions (DL's), therapeutics, etc. However, little is known about the influence of MS DL's on the cardiovascular system and especially in the coronary vasculature although few reports mention coronary vasospasm due to a...

It is well established that cognitive impairment (CI) affects about 26-56% of multiple sclerosis (MS) patients [1]. On the other hand, stigma denotes a "social process, experienced or anticipated, characterized by exclusion, rejection, blame or devaluation that results from experience, perception or reasonable anticipation of an adverse social judg...

Introduction: Tumefactive demyelination is a rare presentation of multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), acute disseminated encephalomyelitis (ADEM) but also of myelin oligodendrocyte glycoprotein (MOG) antibody-associated demyelination.Although regular monitoring of MOG-Abs is not yet recommended as reliable in...

Objective: Familial Multiple Sclerosis (fMS) is reported to have distinct clinical and imaging characteristics in comparison to the sporadic disease (sMS). Nevertheless, the genetic/immunogenetic profile of fMS has never been investigated in depth, so far. In this study we examined differences of HLA-DRB1 allelic frequencies between 57 fMS and 141...

Background: Multiple Sclerosis is a multifactorial autoimmune disease of the central nervous system, characterized by focal inflammation, demyelination and secondary axonal injury. TREM2 is a signaling protein which participates in the innate immune system by implication to inflammation, proliferation and phagocytosis. The R47H (rs75392628) rare v...

Objective: The impetus for this consensus discussion was to recommend clinical trial designs that can deliver high-quality data for effective therapies for pediatric patients, in a reasonable timeframe, with a key focus on short- and long-term safety. Methods: The International Pediatric Multiple Sclerosis Study Group convened a meeting of exper...

MOG-antibody associated demyelinating disease is a new emerging diagnostic entity. Recently, international recommendations for testing of anti-MOG antibodies were published. Herein, we describe a case of anti-MOG antibody-associated demyelinating disease initially diagnosed as typical MS, and, at presentation, not fulfilling the proposed recommenda...

Early-onset (pediatric and adolescent) multiple sclerosis (MS) is a chronic autoimmune and neurodegenerative disorder of the central nervous system, which accounts for 3-5% of all MS cases. The major histocompatibility complex (MHC) with its polymorphisms has been the genetic locus with the most robust association with adult MS, since its first dis...

Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disorder. Two forms are recognized, familial (FALS) that accounts for 5–10% of ALS cases, and sporadic (SALS) that accounts for the rest. Early diagnosis of ALS is important since it improves their therapeutic efficacy. Current diagnosis is based on clinical assessment and re...

Early-onset (pediatric and adolescent) multiple sclerosis (MS) is a well-established demyelinating disease that accounts for approximately 3-5% of all MS cases. Thus, identifying potential biomarkers that can reflect the pathogenic mechanisms, disease course and prognosis, and therapeutic response in such patients is of paramount importance. Myelin...

Objectives: Psychological stress is an important risk factor for multiple sclerosis (MS) onset, relapse, neurological symptoms and psychosocial adjustment to the disease. Mounting evidence suggests that stress management could halt the disease progression and improve patients' wellbeing. The aim of this study was to investigate the effectiveness o...

Background Alemtuzumab has been demonstrated to reduce the risks of relapse and accumulation of sustained disability in Multiple Sclerosis (MS) patients compared to β-interferon. It acts against CD52, leading primarily to lymphopenia. Recent data have shown that mild neutropenia is observed in 16% of treated MS-patients whereas severe neutropenia o...

Objective X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, a gap junction protein expressed in Schwann cells, but also found in oligodendrocytes. Four patients with CMTX developing central nervous system (CNS) demyelination compatible with multiple sclerosis (MS) have been in...

Objective: Few studies are available worldwide concerning clinical, imaging and genetic/immunogenetic profile of familial multiple sclerosis (fMS). Recent but not systematic data concerning fMS, without direct comparison to sporadic MS (sMS) drove our aim towards further research in the field, given the total lack of information for the Greek popu...

Multiple Sclerosis (MS) is the most studied demyelinating disease of the Central Nervous System, affecting mainly young adults. Early-onset-MS (EOMS, pediatric-adolescent) is a rare MS manifestation, representing a 3-5% of all cases. The role of HLA-DRB1*15:01 allele is well established in adult-onset-MS (AOMS) and confirmed in many Caucasian popul...

Purpose: Cognitive impairment in multiple sclerosis has been associated with cognitive event-related potentials and MRI abnormalities. This study aims to explore for the first time the association between P300 and MRI in multiple sclerosis. Methods: Fifty-eight relapsing-remitting patients (41.5 ± 10.5 years old, 41 women, disease duration 139.7...

Background: Cognitive impairment (CI) has been associated with numerous magnetic resonance imaging (MRI) indices in multiple sclerosis (MS) patients. In this study we investigated the association of a large set of 2D and 3D MRI markers with cognitive function in MS. Methods: A sample of 61 RRMS patients (mean age 41.8 ± 10.6 years old, 44 women,...

27th Meeting of Hellenic society for Neuroscience

THE CORE ROLE OF HLA-GENOTYPING IN ALL MULTIPLE SCLEROSIS ASPECTS AND THERAPEUTICS

Background: The comorbidity between Multiple Sclerosis (MS) and Human Immunodeficiency Virus (HIV) infection is particularly rare. Only a few cases of comorbidity of Clinically Definite(CD)-MS and HIV have been documented worldwide, while the potential beneficial role of antiretroviral therapy regarding MS activity has long been an area of debate....

Background: The comorbidity between Multiple Sclerosis (MS) and Human Immunodeficiency Virus (HIV) infection is particularly rare. Only a few cases of comorbidity of Clinically Definite(CD)-MS and HIV have been documented worldwide, while the potential beneficial role of antiretroviral therapy regarding MS activity has long been an area of debate....

Multiple Sclerosis (MS) is probably the best studied chronic inflammatory and demyelinating disease of the Central Nervous System (CNS), with a clear impact on patients' quality of life. Many factors have been described to play a role in the initiation and clinical course of the disease, as well as in the response to medication. These factors inclu...

The central nervous system (CNS) is a complex organ that is isolated from the periphery due to the existence of the blood-brain barrier (BBB). Recently, a