Abstract:
:Objective: This study aimed to screen gene mutations in Chinese patients with benign essential blepharospasm (BEB) to understand its etiology. Methods: Twenty BEB patients diagnosed by clinical manifestations between April 2015 and October 2015 were enrolled. All the cases were investigated by questionnaires about general conditions, social behavioral factors, environmental factors, psychological factors, genetic factors, and previous diseases. In each patient, a total of 151 genes related to movement disorders were analyzed by second-generation sequencing. Results: Two patients had a family history of BEB, and they had SYNE1 and Cdkn1A-interacting zinc finger protein 1 (CIZ1) mutation, respectively. We found the SYNE1 mutation in seven patients, the CIZ1 mutation in two patients, the CACNA1A mutation in two patients, the LRRK2 mutation in two patients, and the FUS mutation in two patients. The C10orf2, TPP1, SLC1A3, PNKD, EIF4G1, SETX, PRRT2, SPTBN2, and TTBK2 mutations were found in only one patient, respectively, while not any mutation in the 151 genes were found in two patients. Some patients had mutations in two genes. Conclusion: Genetic factors, especially SYNE1 and CIZ1 mutations, contribute to the etiology of BEB.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Dong H,Luo Y,Fan S,Yin B,Weng C,Peng Bdoi
10.3389/fneur.2019.01387subject
Has Abstractpub_date
2020-01-23 00:00:00pages
1387issn
1664-2295journal_volume
10pub_type
杂志文章abstract::Background: Strokes have a huge impact on patients' quality of life. Although there are potentially effective secondary preventions and treatment options for stroke patients, adherence is mostly low. Low disease and treatment-related knowledge and, consequently, a lack of informed decision-making in stroke patients ma...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.526515
更新日期:2020-12-07 00:00:00
abstract::Annual cycles of physiology and behavior are highly prevalent in organisms inhabiting temperate and polar regions. Examples in mammals include changes in appetite and body fat composition, hibernation and torpor, growth of antlers, pelage and horns, and seasonal reproduction. The timing of these seasonal cycles reflec...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00079
更新日期:2017-03-10 00:00:00
abstract::Objective: The peak-to-peak amplitude of the p13-n23 wave in cervical vestibular evoked myogenic potential can increase after furosemide administration in patients with Meniere's disease [furosemide-loading VEMP (FVEMP) testing]. The examination is used to test for the presence of endolymphatic hydrops; we investigate...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00636
更新日期:2018-08-03 00:00:00
abstract::Objectives: This study aimed to assess the efficacy of minocycline for the treatment of acute ischemic stroke. Background: While there have been meta-analysis that surveyed the efficacy of minocycline in the treatment of acute stroke, they have some methodological limitations. We performed a new systematic review whic...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01103
更新日期:2018-12-20 00:00:00
abstract::Traumatic brain injury (TBI) is a major health concern worldwide. Laboratory studies utilizing animal models of TBI are essential for addressing pathological mechanisms of brain injury and development of innovative treatments. Over the past 75 years, pioneering head injury researchers have devised and tested a number ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2016.00217
更新日期:2016-12-02 00:00:00
abstract::Epilepsy is a neurological disorder in which, in many cases, there is poor pharmacological control of seizures. Nevertheless, it may respond beneficially to alternative treatments such as dietary therapy, like the ketogenic diet or caloric restriction. One of the mechanisms of these diets is to produce a hyperpolariza...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.584298
更新日期:2020-11-05 00:00:00
abstract::The corticospinal system is a major motor pathway in the control of skilled voluntary movements such as reaching and grasping. It has developed considerably phylogenetically to reach a peak in humans. Because rodents possess advanced forelimb movements that can be used for reaching and grasping food, it is commonly co...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00103
更新日期:2014-06-20 00:00:00
abstract::A decrease in glutamate in the medial prefrontal cortex (mPFC) has been extensively found in animal models of chronic pain. Given that the mPFC is implicated in emotional appraisal, cognition and extinction of fear, could a potential decrease in glutamate be associated with increased pessimistic thinking, fear and wor...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01110
更新日期:2019-12-03 00:00:00
abstract::There is currently no therapeutic drug treatment for traumatic brain injury (TBI) despite decades of experimental clinical trials. This may be because the mechanistic pathways for improving TBI outcomes have yet to be identified and exploited. As such, there remains a need to seek out new molecular targets and their d...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00178
更新日期:2015-09-02 00:00:00
abstract::Narcolepsy with cataplexy is a rare, but important differential diagnosis for daytime sleepiness and atonic paroxysms in an adolescent. A recent increase in incidence in the pediatric age group probably linked to the use of the Pandemrix influenza vaccine in 2009, has increased awareness that different environmental f...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2016.00130
更新日期:2016-08-10 00:00:00
abstract::Background: Over the last few years there has been growing interest in use of visual measures as useful tools for multiple sclerosis (MS) prognosis and tracking. Optic neuritis (ON) being a prevalent and often-presenting symptom of the disease, as well as the high occurrence rate of posterior visual system damage inde...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00455
更新日期:2019-05-03 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::Background: Writer's cramp (WC) is a task-specific focal hand dystonia presenting with pain, stiffness and/or tremor while writing. We explored the involvement of cortical and brainstem circuits by measuring intermuscular coherence (IMC) and pre-pulse inhibition (PPI) of the blink reflex. Methods: IMC was measured in ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00517
更新日期:2018-07-02 00:00:00
abstract:BACKGROUND AND PURPOSE:Cardiac myxoma is a rare etiology of stroke. Both cerebral microbleeds and cardiac myxoma may increase the risk of intracerebral hemorrhage after intravenous (IV) thrombolysis. However, data are still limited. We report a case of multiple cerebral microbleeds treated with IV thrombolysis with lat...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00252
更新日期:2014-12-01 00:00:00
abstract::Motion perception following rotational vestibular stimulation is described either as a self-motion or as an environmental-motion. The purpose of the present study was to establish frequency of occurrence of both sensations in healthy humans; what other sensations they experience and how factors insinuation and visual ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00162
更新日期:2019-02-27 00:00:00
abstract::Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment. A growing number of loci and genes are being identified, but still more than 50% of the patients re...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00041
更新日期:2020-02-14 00:00:00
abstract:BACKGROUND:To evaluate the efficacy and tolerability of a clonidine transdermal patch in the treatment of children with tic disorders (TD) and to establish a predictive model for patients. METHODS:Forty-one patients who met the inclusion criteria entered into 12 weeks of prospective, open, single-group, self-controlle...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00032
更新日期:2017-02-23 00:00:00
abstract:INTRODUCTION:Core cerebrospinal fluid (CSF) biomarkers - Aβ42, Tau, and phosphorylated Tau (pTau) - have been recently incorporated in the revised criteria for Alzheimer's disease (AD). However, their widespread clinical application lacks standardization. Pre-analytical sample handling and storage play an important rol...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00153
更新日期:2015-07-08 00:00:00
abstract::Background: Automated ASPECTS has the potential of reducing interobserver variability in the determination of early ischemic changes. We aimed to assess the performance of an automated ASPECTS vs. ASPECTS interpreted for sent CT images on WhatsApp and to correlate these results with the outcome. Materials and Methods:...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00333
更新日期:2020-05-19 00:00:00
abstract::The developmental vulnerability of different classes of axonal pathways in preterm white matter is not known. We propose that laminar compartments of the developing cerebral wall serve as spatial framework for axonal growth and evaluate potential of anatomical landmarks for understanding reorganization of the cerebral...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00139
更新日期:2014-07-29 00:00:00
abstract:BACKGROUND:Unlike many other central nervous system (CNS) tumors, the surgical management of primary central nervous system lymphomas (PCNSL) is traditionally limited by diagnostic biopsy. Studies that predate the use of modern neurosurgical techniques have reported a prohibitive operative morbidity for this surgery. T...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00478
更新日期:2017-09-12 00:00:00
abstract::Guillain-Barré syndrome (GBS) is mainly associated with preceding exposure to an infectious agent, although the precise pathogenic mechanisms and causes remain unknown. Increasing evidence indicates an association between trauma-related factors and GBS. Here, we performed a systematic review, summarized the current sc...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.588290
更新日期:2020-11-06 00:00:00
abstract::Antiphospholipid syndrome (APS) is an autoimmune antibody-mediated condition characterized by thrombotic events and/or pregnancy morbidity in association with persistent positivity to antiphospholipid antibodies (aPL). The nervous system is frequently affected, as intracranial vessels are the most frequent site of art...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.01001
更新日期:2018-11-26 00:00:00
abstract::This study describes two experiments that were conducted in search for a behavioral paradigm to test for tinnitus in guinea pigs. Conditioning paradigms are available to determine the presence of tinnitus in animals and are based on the assumption that tinnitus impairs their ability to detect silent intervals in conti...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00207
更新日期:2014-10-15 00:00:00
abstract::Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced coenzyme Q to cytochrome C and thus, contributes to the formation of ...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00944
更新日期:2019-09-04 00:00:00
abstract::For most individuals with traumatic brain injury (TBI), the ability to work is crucial to financial and psychological well-being. TBI produces a wide range of cognitive, physical, emotional, and interpersonal impairments that may undermine the ability to work. Employment is therefore a primary goal of TBI rehabilitati...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00190
更新日期:2019-03-15 00:00:00
abstract::Purpose: Adults with cerebral palsy experience challenges related to lifelong disability, such as stress, fatigue, pain and emotional issues. E-health services can be delivered regardless of residence and level of functioning. The aim of this pilot study was to explore the potential benefits and feasibility of a mindf...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00195
更新日期:2020-04-03 00:00:00
abstract:BACKGROUND:Hypertension (HTN) is the most common cause of spontaneous intracerebral hemorrhage (ICH). The aim of this study is to investigate the role of resistant HTN in patients with ICH. METHODS AND RESULTS:We conducted a retrospective study of all consecutive ICH admissions at our medical center from November 2013...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00184
更新日期:2017-05-03 00:00:00
abstract::Objectives: Patient-reported outcomes gain importance for the assessment of auditory abilities in cochlear implant users and for the evaluation of auditory rehabilitation. Aims of the study were to explore the interrelation of self-reported improvements in auditory ability with improvements in speech comprehension and...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00753
更新日期:2018-09-10 00:00:00
abstract::This study aims to quantify passive muscle stiffness of spastic wrist flexors in stroke survivors using shear wave elastography (SWE) and to correlate with neural and non-neural contributors estimated from a biomechanical model to hyper-resistance measured during passive wrist extension. Fifteen hemiplegic individuals...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00736
更新日期:2019-07-10 00:00:00