Abstract:
:Genetic findings of the past years have provided ample evidence for a substantial etiologic heterogeneity of dystonic syndromes. While an increasing number of genes are being identified for Mendelian forms of isolated and combined dystonias using classical genetic mapping and whole-exome sequencing techniques, their precise role in the molecular pathogenesis is still largely unknown. Also, the role of genetic risk factors in the etiology of sporadic dystonias is still enigmatic. Only the systematic ascertainment and precise clinical characterization of very large cohorts with dystonia, combined with systematic genetic studies, will be able to unravel the complex network of factors that determine disease risk and phenotypic expression.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Verbeek DS,Gasser Tdoi
10.3389/fneur.2016.00241subject
Has Abstractpub_date
2017-01-16 00:00:00pages
241issn
1664-2295journal_volume
7pub_type
杂志文章,评审abstract::Robust and reliable stroke lesion segmentation is a crucial step toward employing lesion volume as an independent endpoint for randomized trials. The aim of this work was to develop and evaluate a novel method to segment sub-acute ischemic stroke lesions from fluid-attenuated inversion recovery (FLAIR) magnetic resona...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00541
更新日期:2019-05-24 00:00:00
abstract::Stroke is a leading cause of death and disability worldwide. While various risk factors have been identified, sleep has only been considered a risk factor more recently. Various epidemiologic studies have associated stroke with sleep such as sleep duration, and laboratory and clinical studies have proposed various und...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00392
更新日期:2017-08-08 00:00:00
abstract::Background: Neurofilament light chain (NFL) was believed to be a promising biomarker for the diagnosis of Amyotrophic lateral sclerosis (ALS) and disease burden evaluation. Objective: To determine the serum NFL level and its clinical relevance, including its association with disease severity [evaluated by the ALS Func...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.579094
更新日期:2020-12-03 00:00:00
abstract::Introduction: The headache phase of migraine could in selected cases potentially be treated by surgical decompression of one or more "trigger sites," located at frontal, temporal, nasal, and occipital sites. This systematic review with subsequent meta-analysis aims at critically evaluating the currently available evid...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00089
更新日期:2019-02-14 00:00:00
abstract::Tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL), which is TNF receptor superfamily member, contributes to several diseases pathogenesis. The aim of this research was to investigate the relevance of serum TRAIL protein levels and mRNA expression in peripheral blood mononuclear cells (PBMC) of pati...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00102
更新日期:2018-03-05 00:00:00
abstract::Magnetic resonance imaging (MRI) is a non-destructive technique that is capable of localizing pathologies and assessing other anatomical features (e.g., tissue volume, microstructure, and white matter connectivity) in postmortem, ex vivo human brains. However, when brains are removed from the skull and cerebrospinal f...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00208
更新日期:2016-11-29 00:00:00
abstract::Background: Given the lethal severity of amyotrophic lateral sclerosis (ALS), the aim of this study was to illuminate the coherence of depression and death anxiety in both ALS patients and caregivers and in how far patients and caregivers are influenced by the mindset of their respective counterpart. Methods: 30 coupl...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01035
更新日期:2018-12-03 00:00:00
abstract::Introduction: Recent studies of patients with multiple sclerosis (MS) have revealed disturbances in distinct components of social cognition, such as impaired mentalizing and empathy. The present study investigated this socio-cognitive profile in MS patients in more detail, by examining their performance on tasks measu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00525
更新日期:2019-05-21 00:00:00
abstract:OBJECTIVES:Use of oral contraceptive pills (OCP) increases the risk of cerebral venous sinus thrombosis (CVST). Whether this risk varies by type, duration, and other forms of hormonal contraceptives is largely unknown. This systematic review and meta-analysis update the current state of knowledge. METHODS:We performed...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00007
更新日期:2015-02-02 00:00:00
abstract::Background: Cervical dystonia (CD) is a rare disorder, and health care providers might be unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of awareness displays the need to highlight the clinical features and treatment in cervical dystonia. In our cohort, we have identified an...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.591418
更新日期:2020-11-27 00:00:00
abstract::Wireless transmission of cortical signals is an essential step to improve the safety of epilepsy procedures requiring seizure focus localization and to provide chronic recording of brain activity for Brain Computer Interface (BCI) applications. Our group developed a fully implantable and externally rechargeable device...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00156
更新日期:2014-08-25 00:00:00
abstract::Objective: Simultaneous electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) were applied to investigate the abnormalities in the topological characteristics of functional brain networks during non-rapid eye movement(NREM)sleep. And we investigated its relationship with cognitive abnormalities...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.617827
更新日期:2021-01-11 00:00:00
abstract::Background: The sequence effect (SE), referring to step-to-step reduction in amplitude, is considered to lead to freezing of gait (FOG) in Parkinson's disease (PD). Visual cues may alleviate SE and help reduce freezing episodes. FOG patients show significant SE prior to turning or toward a doorway, but the SE toward a...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00838
更新日期:2020-08-12 00:00:00
abstract::Preterm-born infants frequently suffer from an array of neurological damage, collectively termed encephalopathy of prematurity (EoP). They also have an increased risk of presenting with a neurodevelopmental disorder (e.g., autism spectrum disorder; attention deficit hyperactivity disorder) later in life. It is hypothe...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00575
更新日期:2020-07-14 00:00:00
abstract::Background and Purpose: The relationship between cerebral microbleeds (CMBs) and prognosis in patients with ischemic stroke is still unclear. Our aim here was to verify the relationship between CMBs and functional outcomes in patients with minor ischemic stroke treated with antiplatelet therapy. Methods: We retrospect...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00522
更新日期:2020-06-16 00:00:00
abstract::Extracellular vesicles (EVs) are involved in the development and progression of neurodegenerative diseases, including Alzheimer's and Parkinson's disease. Moreover, EVs have the capacity to modify the physiology of neuronal circuits by transferring proteins, RNA, lipids, and metabolites. The proteomic characterization...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.580030
更新日期:2020-12-11 00:00:00
abstract::The vestibular system plays a crucial role in the multisensory control of balance. When vestibular function is lost, essential tasks such as postural control, gaze stabilization, and spatial orientation are limited and the quality of life of patients is significantly impaired. Currently, there is no effective treatmen...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00066
更新日期:2014-04-29 00:00:00
abstract::The combination of phasic and tonic neuromuscular processes are involved in the maintenance of normal upright posture. The latter is of particular importance in some pathologies, such as Parkinson's Disease (PD), which is known by one of its cardinal symptoms-tonic dysfunction (i.e., rigidity). Changes in tonic functi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01130
更新日期:2019-01-21 00:00:00
abstract::When the diagnosis of myasthenia gravis (MG) has been secured, the aim of management should be prompt symptom control and the induction of remission or minimal manifestations. Symptom control, with acetylcholinesterase inhibitors such as pyridostigmine, is commonly employed. This may be sufficient in mild disease. The...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00604
更新日期:2020-07-07 00:00:00
abstract:BACKGROUND:The neural constraints underlying hemiparetic gait dysfunction are associated with abnormal kinetic outflow and altered muscle synergy structure. Recent evidence from our lab implicates the lesioned hemisphere in mediating the expression of abnormally coupled hip adduction and knee extension synergy, suggest...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00373
更新日期:2017-08-07 00:00:00
abstract:Background and Objectives:Benign paroxysmal positional vertigo (BPPV) recurs frequently. This study aims to determine that each patient with BPPV has a predilection for a specific canal and the type of recurred BPPV can be predicted from that observed during the previous attack. Methods:The involved side (right, left,...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00690
更新日期:2017-12-15 00:00:00
abstract::Background: Headache associated with Moyamoya disease (HAMD) in the Chinese population is not well-described. The long-term outcome of surgical revascularization and natural course of HAMD has not been disclosed either. Methods: A headache screening questionnaire in China based on the ICHD2 and a face-to-face intervie...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.605636
更新日期:2020-11-26 00:00:00
abstract:BACKGROUND:Persistent postural-perceptual dizziness (PPPD) is a common functional vestibular disorder characterized by persistent symptoms of non-vertiginous dizziness and unsteadiness that are exacerbated by upright posture, self-motion, and exposure to complex or moving visual stimuli. Recent physiologic and neuroima...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00529
更新日期:2017-10-17 00:00:00
abstract::We previously identified a distinct mutation pattern in the antibody genes of B cells isolated from cerebrospinal fluid (CSF) that can identify patients who have relapsing-remitting multiple sclerosis (RRMS) and patients with clinically isolated syndromes who will convert to RRMS. This antibody gene signature (AGS) wa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00166
更新日期:2014-09-16 00:00:00
abstract::Resting state functional MRI (rs-fMRI) has provided important insights into functional reorganization in subjects with Multiple Sclerosis (MS) at different stage of disease. In this cross-sectional study we first assessed, by means of rs-fMRI, the impact of overall T2 lesion load (T2LL) and MS severity score (MSSS) on...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00690
更新日期:2018-08-20 00:00:00
abstract::Previous studies have suggested that the corticoreticular tract (CRT) has an important role in motor function almost next to the corticospinal tract (CST) in the human brain. Herein, the CRT is reviewed with regard to its anatomy, function, and recovery mechanisms after injury, with particular focus on previous diffus...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.01188
更新日期:2019-11-12 00:00:00
abstract::Impulse control disorder (ICD) is a major non-motor complication of Parkinson's disease (PD) with often devastating consequences for patients' quality of life. In this study, we aimed to characterize the phenotype of impulsivity in PD and its neuroanatomical correlates. Methods: Thirty-seven PD patients (15 patients w...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01338
更新日期:2020-01-10 00:00:00
abstract::Hemorrhagic cerebrovascular disease in the pediatric population can have devastating and long-term effects. Progress in the fields of genetics, neuroimaging, pharmacology, and surgical techniques has led to improved diagnosis and management of pediatric cerebrovascular diseases. In this review we discuss the current e...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.01055
更新日期:2020-09-17 00:00:00
abstract::Obstructive sleep apnea (OSA) is recurrent obstruction of the upper airway during sleep leading to intermittent hypoxia (IH). OSA has been associated with all components of the metabolic syndrome as well as with non-alcoholic fatty liver disease (NAFLD). NAFLD is a common condition ranging in severity from uncomplicat...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00149
更新日期:2012-10-17 00:00:00
abstract::Cerebral microbleeds (microbleeds) are small, punctuate hypointense lesions seen in T2* Gradient-Recall Echo (GRE) and Susceptibility-Weighted (SWI) Magnetic Resonance Imaging (MRI) sequences, corresponding to areas of hemosiderin breakdown products from prior microscopic hemorrhages. They occur in the setting of impa...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2013.00205
更新日期:2014-01-06 00:00:00