Marianthi Breza
A5087469218- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Multiple Sclerosis Research Studies
- Peripheral Neuropathies and Disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- RNA regulation and disease
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- Systemic Lupus Erythematosus Research
- Mitochondrial Function and Pathology
- Trigeminal Neuralgia and Treatments
- Sympathectomy and Hyperhidrosis Treatments
- Muscle Physiology and Disorders
- Migraine and Headache Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- RNA Research and Splicing
- Alzheimer's disease research and treatments
- Neuroscience and Neuropharmacology Research
- Nuclear Receptors and Signaling
- Genomics and Rare Diseases
- Amyotrophic Lateral Sclerosis Research
- MicroRNA in disease regulation
- Cerebrospinal fluid and hydrocephalus
University College London
2020-2023
Eginition Hospital
2015-2022
National and Kapodistrian University of Athens
2015-2022
National Hospital for Neurology and Neurosurgery
2022
Fondazione IRCCS Istituto Neurologico Carlo Besta
2022
University of Thessaly
2022
Medical University of South Carolina
2020
Neuroscience Institute
2020
Biomedical Research Foundation of the Academy of Athens
2020
Weatherford College
2020
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% individuals affected PFBC no molecular diagnosis. We report four unrelated families presenting initial learning difficulties seizures later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs,...
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants ten unrelated patients with neurodevelopmental disorder characterized by variable degrees central peripheral involvement. Abnormal expression Nfasc155 is accompanied severe loss myelinated fibres.
There is a pressing need to identify and validate, minimally invasive, molecular biomarkers that will complement current practices increase the diagnostic accuracy in Parkinson's disease (PD). Brain-enriched miRNAs regulate all aspects of neuron development function; importantly, they are secreted by neurons amounts can be readily detected plasma. Τhe aim present study was validate set previously identified brain-enriched with potential for idiopathic PD recognize pathways affected these...
Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino neurotransmitters in brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA CNS, encoded GAD1 gene. Disruption results imbalance excitatory neurotransmitters, as Gad1-/- mice die neonatally severe cleft palate, it has not been possible determine any potential neurological dysfunction. Furthermore, little known...
<h3>Background and Objectives</h3> Autoantibodies against α3-subunit–containing nicotinic acetylcholine receptors (α3-nAChRs), usually measured by radioimmunoprecipitation assay (RIPA), are detected in patients with autoimmune autonomic ganglionopathy (AAG). However, low α3-nAChR antibody levels frequently other neurologic diseases questionable significance. Our objective was to develop a method for the selective detection of potentially pathogenic antibodies, seemingly present only AAG....
Atypical forms of demyelinating diseases with tumor-like lesions and aggressive course represent a diagnostic therapeutic challenge for neurologists. Herein, we describe 50-year-old woman presenting subacute onset left hemiparesis, memory difficulties headache. Brain MRI revealed tumefactive right frontal-parietal lesion perilesional edema, mass effect homogenous post-contrast enhancement, along other small atypical in the white-matter. biopsy cerebral ruled out lymphoma or any neoplastic...
Abstract Introduction We investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1 ( PSEN1 ) related familial Alzheimer's disease (AD). Methods performed whole exome sequencing (WES) 60 probands with hereditary (HSP) phenotype was negative for variants known HSP‐related genes. Where mutation identified, brain biopsy performed. link between HSP AD silico pathway analysis measured vivo stability mutant...
(IFITM3) is an innate immune protein that has been identified as a novel γ-secretase (γs) modulator. FYN kinase stabilizes IFITM3 on the membrane, primes APP for amyloidogenic γs processing and mediates tau oligomerization. The purpose of this study to explore role in AD COVID-19, expanding previous research from our group. A 520 gene signature containing (termed Ia) was extracted previously published meta-analysis Alzheimer's disease (AD) bulk- single nuclei sequencing data. Exploratory...
A 13-year-old girl presented with a 5-day history of oscillopsia. On examination, ocular flutter and mild cerebellar signs were found. Brain magnetic resonance imaging (MRI) revealed four periventricular subcortical non-enhancing lesions. Cerebrospinal fluid (CSF) oligoclonal bands negative. Neuroblastoma or other malignancies not She responded well to corticosteroid–intravenous immunoglobulin (IVIG) combination remained symptom-free for 3 years until presenting again isolated flutter. MRI...
Seven thousand rare diseases have been identified; most of them are genetic origin. The diagnosis a neurogenetic disease is difficult, and management training programs not well defined through Europe. To capture assess care needs, the Neurogenetics Panel European Academy Neurology (EAN) has performed an explorative survey.The survey covering multiple topics neurogenetics was sent to all neurologists neuropediatricians affiliated with EAN practicing in Europe.We collected answers from 239...
Cortical demyelination and meningeal inflammation have been detected neuropathologically in multiple sclerosis (MS) recently myelin oligodendrocyte glycoprotein antibody disease (MOGAD).To assess vivo cortical leptomeningeal involvement MOGAD.We prospectively evaluated 11 MOGAD 12 relapsing-remitting MS (RRMS) patients combining three-dimensional fluid-attenuated inversion recovery (3D-FLAIR) 3D-T1-weighted (3D-T1w) sequences at 3-Tesla magnetic resonance imaging (MRI). Leptomeningeal...
Objective X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, gap junction protein expressed Schwann cells, but also found oligodendrocytes. Four patients with CMTX developing central nervous system (CNS) demyelination compatible multiple sclerosis (MS) have been individually published. We presently sought to systematically investigate the relationship between and MS. Methods Over 20 years, 70 consecutive (36 men) were...
Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized early onset, spine deformities, and cranial nerve involvement. We screened SH3TC2 50 unrelated Greek patients with suspected pedigree compatible inheritance. All had been previously for PMP22, GJB1, MPZ mutations. found five identified pathogenic distributed among 13 homozygosity or compound heterozygosity (p. Arg954Stop, Arg1109Stop,...