Marianthi Breza
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View article: Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension
Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension Open
View article: <scp>Genotype–phenotype</scp> relations for episodic ataxia genes: <scp>MDSGene</scp> systematic review
<span>Genotype–phenotype</span> relations for episodic ataxia genes: <span>MDSGene</span> systematic review Open
Background Most episodic ataxias (EA) are autosomal dominantly inherited and characterized by recurrent attacks of ataxia and other paroxysmal and non‐paroxysmal features. EA is often caused by pathogenic variants in the CACNA1A, KCNA1 , P…
View article: Genotype–Phenotype Correlations for <scp>ATX‐<i>TBP</i></scp> (<scp>SCA17</scp>): <scp>MDSGene</scp> Systematic Review
Genotype–Phenotype Correlations for <span>ATX‐<i>TBP</i></span> (<span>SCA17</span>): <span>MDSGene</span> Systematic Review Open
Spinocerebellar ataxia type 17 or ATX‐ TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD…
View article: B-Cell Targeted Therapies in Patients with Multiple Sclerosis and Incidence of Headache: A Systematic Review and Meta-Analysis
B-Cell Targeted Therapies in Patients with Multiple Sclerosis and Incidence of Headache: A Systematic Review and Meta-Analysis Open
Background: Multiple Sclerosis treatment with B-cell targeted therapies may be associated with an increased incidence of headache. We aimed to find and compare the association of B-cell targeted therapies with the incidence of headache in …
View article: How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey
How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey Open
Background and purpose Seven thousand rare diseases have been identified; most of them are of genetic origin. The diagnosis of a neurogenetic disease is difficult, and management and training programs are not well defined through Europe. T…
View article: Alemtuzumab-induced alopecia universalis and transient accommodation spasm in a patient with multiple sclerosis
Alemtuzumab-induced alopecia universalis and transient accommodation spasm in a patient with multiple sclerosis Open
Herein, we report a case of alopecia universalis and transient accommodation spasm presented after alemtuzumab administration in a patient previously treated with fingolimod. To the best of our knowledge, this is the first report of accomm…
View article: Innate immunity and metal ion trafficking pathway perturbations in idiopathic Parkinson's disease and Tuberculosis: A comparative transcriptomics approach
Innate immunity and metal ion trafficking pathway perturbations in idiopathic Parkinson's disease and Tuberculosis: A comparative transcriptomics approach Open
View article: FYN, SARS-CoV-2, and IFITM3 in the neurobiology of Alzheimer's disease
FYN, SARS-CoV-2, and IFITM3 in the neurobiology of Alzheimer's disease Open
View article: Monoclonal Antibodies Targeting CGRP: From Clinical Studies to Real-World Evidence—What Do We Know So Far?
Monoclonal Antibodies Targeting CGRP: From Clinical Studies to Real-World Evidence—What Do We Know So Far? Open
Now more than ever is the time of monoclonal antibody use in neurology. In headaches, disease-specific and mechanism-based treatments existed only for symptomatic management of migraines (i.e., triptans), while the standard prophylactic an…
View article: Expanding the Spectrum of <scp><i>AP5Z1‐</i></scp>Related Hereditary Spastic Paraplegia (<scp>HSP‐SPG48</scp>): A Multicenter Study on a Rare Disease
Expanding the Spectrum of <span><i>AP5Z1‐</i></span>Related Hereditary Spastic Paraplegia (<span>HSP‐SPG48</span>): A Multicenter Study on a Rare Disease Open
Biallelic mutations in AP5Z1 are known to cause a rare, autosomal-recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647).1 To date, only 11 SPG48 patients have been reported. The clinical spectrum …
View article: Diffuse glioma manifesting as normal pressure hydrocephalus: A potential pitfall in diagnosis-a case report
Diffuse glioma manifesting as normal pressure hydrocephalus: A potential pitfall in diagnosis-a case report Open
View article: Spastic paraplegia preceding <i>PSEN1</i>‐related familial Alzheimer's disease
Spastic paraplegia preceding <i>PSEN1</i>‐related familial Alzheimer's disease Open
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 We performed whole ex…
View article: B-Cell Targeted Therapies in Patients with Multiple Sclerosis and Incidence of Headache: A Systematic Review and Meta-Analysis
B-Cell Targeted Therapies in Patients with Multiple Sclerosis and Incidence of Headache: A Systematic Review and Meta-Analysis Open
View article: FYN, SARS-CoV-2, and IFITM3 in the Neurobiology of Alzheimer’s Disease: A Regulatory Feedback Loop Governing Tau and Aβ Pathology
FYN, SARS-CoV-2, and IFITM3 in the Neurobiology of Alzheimer’s Disease: A Regulatory Feedback Loop Governing Tau and Aβ Pathology Open
Introduction IFITM3, an innate immune protein linked to COVID-19 severity, has recently been identified as a novel γ-secretase modulator. Independent research has shown that IFITM3 may facilitate SARS-CoV-2 neurotropism in an ACE2-in…
View article: Validation of differentially expressed brain‐enriched microRNAs in the plasma of PD patients
Validation of differentially expressed brain‐enriched microRNAs in the plasma of PD patients Open
Objective There is a pressing need to identify and validate, minimally invasive, molecular biomarkers that will complement current practices and increase the diagnostic accuracy in Parkinson’s disease (PD). Brain‐enriched miRNAs regulate a…
View article: Therapeutic Management: When and What
Therapeutic Management: When and What Open
Migraine is a widespread brain disease that is classified as the second most disabling condition and has the third highest prevalence of all medical conditions. Despite its non-emergent or life-threatening nature, migraine can progress to …
View article: Recurrent Fulminant Tumefactive Demyelination With Marburg-Like Features and Atypical Presentation: Therapeutic Dilemmas and Review of Literature
Recurrent Fulminant Tumefactive Demyelination With Marburg-Like Features and Atypical Presentation: Therapeutic Dilemmas and Review of Literature Open
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 hemipa…
View article: Validation of Differentially Expressed Brain-Enriched microRNAs in the Plasma of Parkinson’s Disease Patients
Validation of Differentially Expressed Brain-Enriched microRNAs in the Plasma of Parkinson’s Disease Patients Open
Background There is a pressing need to identify and validate, minimally invasive, molecular biomarkers that will complement current practices and increase the diagnostic accuracy in Parkinson’s disease (PD). Brain-enriched miRNAs regulate …
View article: Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants Open
Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contrib…
View article: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia Open
View article: Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Open
View article: Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease
Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease Open
Objective: X-linked Charcot-Marie-Tooth disease (CMTX) is an hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, found in Schwann cells, but also expressed in oligodendrocytes. Reports have identified CNS involvement …
View article: Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination Open
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 bialleli…
View article: Ocular flutter as presenting manifestation of pediatric MOG antibody–associated demyelination: A case report
Ocular flutter as presenting manifestation of pediatric MOG antibody–associated demyelination: A case report Open
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 and subcortical non-enhancing lesio…
View article: Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing Open