CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases.

Background: Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation and genetic mutations reported in Greece.

Methods: After a systematic literature search, we performed a pooled analysis of all published CADASIL cases from Greece.

Bilateral non-bifurcating carotid arteries in a patient with recurrent cerebrovascular events.

Introduction: Among congenital anomalies of the carotid artery circulation, the presence of a non-bifurcating carotid artery is extremely rare. Relevant cases with unilateral non-bifurcating carotid artery have scarcely been described in the literature. After extensive literature review, only one case with asymptomatic bilateral non-bifurcating carotid arteries associated with persistent proatlantal artery was identified.

Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome.

Background: Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek family that presented with a CADASIL clinical and neuroimaging phenotype.

Methods: A 65-year-old man was admitted with recurrent transient episodes of right leg numbness.

Evolving Causes of Rapidly Progressive Dementia: A 5-Year Comparative Study.

Background: Rapidly progressive dementia (RPD) is a clinical syndrome developing in <1 to 2 years. Recent progress in RPD evaluation is significant, so RPD's prevalence may change over time. The aim of our new case series was to estimate the relative frequency of RPDs' causative entities, considering the recent advances in RPDs' diagnosis, and compare the results with those of our previous report.

Primary Sjögren's syndrome (pSS)-related cerebellar ataxia: a systematic review and meta-analysis.

Background: Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder characterized by lymphocytic infiltrates of the exocrine glands, particularly the salivary and lacrimal glands, resulting in oral and ocular dryness. pSS has been linked to various neurological manifestations, including cerebellar dysfunction. We aimed to provide a comprehensive analysis of the currently available evidence regarding pSS-related cerebellar ataxia.

Effect of Apolipoprotein E4 on the Driving Behavior of Patients with Amnestic Mild Cognitive Impairment or Mild Alzheimer's Disease Dementia.

Background: The driving behavior of patients with mild Alzheimer's disease dementia (ADD) and patients with mild cognitive impairment (MCI) is frequently characterized by errors. A genetic factor affecting cognition is apolipoprotein E4 (APOE4), with carriers of APOE4 showing greater episodic memory impairment than non-carriers. However, differences in the driving performance of the two groups have not been investigated.

Methylprednisolone stimulated gene expression (GILZ, MCL-1) and basal cortisol levels in multiple sclerosis patients in relapse are associated with clinical response.

Glucocorticoids (GCs) are the main treatment of relapse in multiple sclerosis (MS). Decreased sensitivity to GCs in MS patients has been associated with lack of the suppressive effect of GCs on inflammatory molecules as well as increased resistance to apoptosis. We investigated GC-sensitivity by measuring the effect of intravenous methylprednisolone (IVMP) treatment on transactivation of anti-inflammatory and apoptotic genes (GILZ, MCL-1 and NOXA respectively), in accordance to clinical outcome.

Neuropsychology in Greece: Results from a survey of practicing professionals.

Neuropsychology is a fast-growing specialty in Greece. This study surveyed the status of neuropsychologists in Greece investigating several aspects of the profession. An online-based questionnaire collected data from December 2019 to February 2020.

APOE Genotype and Alzheimer's Disease: The Influence of Lifestyle and Environmental Factors.

Alzheimer's disease (AD) is the most common neurodegenerative disorder with obscure pathogenesis and no disease-modifying therapy to date. AD is multifactorial disease that develops from the complex interplay of genetic factors and environmental exposures. The E4 allele of the gene encoding apolipoprotein E () is the most common genetic risk factor for AD, whereas the E2 allele acts in a protective manner.

Sinus bradycardia is associated with poor outcome in critically ill patients with COVID-19 due to the B.1.1.7 Lineage.

The progress of COVID-19 from moderate to severe may be precipitous, while the characteristics of the disease are heterogenous. The aim of this study was to describe the development of sinus bradycardia in critically ill patients with COVID-19 and its association with outcome in outbreak due to the SARS-CoV-2 B.1.

Increased Serum Concentrations of High Mobility Group Box 1 (HMGB1) Protein in Children with Autism Spectrum Disorder.

High mobility group box 1 protein (HMGB1) has been suggested to be involved in the immune dysfunction and inflammation reported in autism spectrum disorder (ASD). We aimed to assess HMGB1 serum concentrations (SCs) in high-functioning ASD children compared to typically developing (TD) controls and to explore their associations with the autism spectrum quotient (AQ), the empathy quotient (EQ), and the systemizing quotient (SQ). The study involved 42 ASD children and 38 TD children, all-male, aged between 6.

Diverse patterns of vulnerability to visual illusions in children with neurodevelopmental disorders.

Research on how children with neurodevelopmental disorders perceive, process, and interpret visual illusions (VIs) has been extensively focused on children with autism spectrum disorder providing controversial findings. In this study, we investigated the patterns of vulnerability to a wide set of VIs comprising 23 standard text book VIs and their variations in a clinical sample of children with neurodevelopmental disorders compared to typically developing children (TD). A total of 176 children, aged between 4.

Impact of the apelin/APJ axis in the pathogenesis of Parkinson's disease with therapeutic potential.

The pathogenesis of Parkinson's disease (PD) remains elusive. There is still no available disease-modifying strategy against PD, whose management is mainly symptomatic. A growing amount of preclinical evidence shows that a complex interplay between autophagy dysregulation, mitochondrial impairment, endoplasmic reticulum stress, oxidative stress, and excessive neuroinflammation underlies PD pathogenesis.

The nonverbal BriefScreen: A cognitive screening method for patients with limited language and motor abilities.

Dementia and significant cognitive decline are frequent sequelae of stroke, but are difficult to evaluate when aphasia and/or motor impairment are present. The linguistic and motor requirements of commonly employed screening tests render them problematic for use post-stroke. The present study examines the validity of the Nonverbal BriefScreen, a brief screening method with limited verbal and motor requirements, in groups of patients with known cognitive impairment using the MMSE as a gold standard.

Prevalence, clinical characteristics and outcomes of Guillain-Barré syndrome spectrum associated with COVID-19: A systematic review and meta-analysis.

Background And Purpose: Mounting evidence supports an association between Guillain-Barré syndrome spectrum (GBSs) and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. However, GBSs in the setting of coronavirus disease 2019 (COVID-19) remains poorly characterized, whilst GBSs prevalence amongst COVID-19 patients has not been previously systematically evaluated using a meta-analytical approach.

Methods: A systematic review and meta-analysis of observational cohort and case series studies reporting on the occurrence, clinical characteristics and outcomes of patients with COVID-19-associated GBSs was performed.

Cervical duplex ultrasound for the diagnosis of giant cell arteritis with vertebral artery involvement.

Giant cell arteritis (GCA) is a systemic inflammatory arteriopathy of medium and large-sized arteries, predominantly affecting branches of the external carotid artery. Ischemic stroke has been reported in 2.8-7% of patients diagnosed with GCA.

Practical recommendations for the diagnosis and management of transthyretin cardiac amyloidosis.

Cardiac amyloidosis (CA) is an infiltrative restrictive cardiomyopathy caused by accumulation in the heart interstitium of amyloid fibrils formed by misfolded proteins. Most common CA types are light chain amyloidosis (AL) caused by monoclonal immunoglobulin light chains and transthyretin amyloidosis (ATTR) caused by either mutated or wild-type transthyretin aggregates. Previously considered a rare disease, CA is increasingly recognized among patients who may be misdiagnosed as undifferentiated heart failure with preserved ejection fraction (HFPEF), paradoxical low-flow/low-gradient aortic stenosis, or otherwise unexplained left ventricular hypertrophy.

REM sleep behavior disorder and other sleep abnormalities in p. A53T SNCA mutation carriers.

Study Objectives: Τo assess whether REM Sleep Behavior Disorder (RBD) and other sleep abnormalities occur in carriers of the p.A53T alpha-synuclein gene (SNCA) mutation, using both subjective and objective measures.

Methods: We have assessed 15 p.

Personality dimensions could explain resilience in patients with eating disorders.

Purpose: Resilience can be defined as the ability to maintain health in the face of adversity. Resilience has been associated with personality traits. Personality traits in the context of Eating Disorders (ED) have also been examined.

Old age mental health services in Southern Balkans: Features, geospatial distribution, current needs, and future perspectives.

Background: Healthcare services are increasingly confronted with challenges related to old age mental disorders. The survey aimed to provide an overview of existing psychogeriatric services in Albania, Bulgaria, Greece, and North Macedonia.

Methods: After identification of psychogeriatric units across the four countries, their head physicians were asked to provide data on their clinical, teaching, and research activity, as well as staff composition.

Left Ventricular Hypertrophy and Cerebral Small Vessel Disease: A Systematic Review and Meta-Analysis.

Background And Purpose: Left ventricular hypertrophy (LVH) is associated with the risk of stroke and dementia independently of other vascular risk factors, but its association with cerebral small vessel disease (CSVD) remains unknown. Here, we employed a systematic review and meta-analysis to address this gap.

Methods: Following the MOOSE guidelines (PROSPERO protocol: CRD42018110305), we systematically searched the literature for studies exploring the association between LVH or left ventricular (LV) mass, with neuroimaging markers of CSVD (lacunes, white matter hyperintensities [WMHs], cerebral microbleeds [CMBs]).

Salivary cortisol and alpha-amylase daily profiles and stress responses to an academic performance test and a moral cognition task in children with neurodevelopmental disorders.

There is evidence that children with neurodevelopmental disorders may exhibit atypical responses to stress and alterations in concentrations and diurnal secretion of stress hormones. We assessed diurnal profiles and stress responses of salivary cortisol and alpha-amylase (sAA) in children with attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and specific learning disorder (SLD) compared to typically developing children (TD). A total of 157 children of both sexes, aged between 6 and 12 years old, took part in the study distributed into four groups: ADHD (N = 34), ASD (N = 56), SLD (N = 43) and TD (N = 24).

Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach.

Background: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We presently sought to determine the range of reduced penetrance alleles in SBMA.