Abstract:
:In the present study, we investigated the genetic variation in a family with acute encephalopathy and retinitis pigmentosa. Nine of 25 people in this family underwent genetic testing. Three family members, namely, the proband and the proband's two sisters, showed symptoms resembling those of meningoencephalitis and simultaneously suffered from retinitis pigmentosa. Whole-exome sequencing and Sanger sequencing identified a heterozygous mutation, chr14: 73673106 c.881G>A (p.W294*), in the presenilin 1 (PSEN1) gene in these three family members, and the SWISS-MODEL server predicted the formation of a truncated protein. This mutation was not found in the asymptomatic family members. This mutation is a newly discovered nonsense mutation that results in a truncated protein. Although the current genetic evidences may indicate the likelihood of association, further investigations are needed to establish the genotype and phenotype relationship.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
You C,Zeng W,Deng L,Lei Z,Gao X,Zhang VW,Wang Ydoi
10.3389/fneur.2020.00319subject
Has Abstractpub_date
2020-05-05 00:00:00pages
319issn
1664-2295journal_volume
11pub_type
杂志文章abstract::Background: Glioblastoma (GBM) is the most aggressive type of primary malignant brain tumor. Carmustine is used by intravenous injection or local implantation in the resection cavity for gliomas, including GBMs. However, the therapeutic potential of carmustine is not well-recognized. This analysis aimed to evaluate th...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.01036
更新日期:2020-09-17 00:00:00
abstract::Background and Purpose: Stroke-related functional risk scores are used to predict patients' functional outcomes following a stroke event. We evaluate the predictive accuracy of machine-learning algorithms for predicting functional outcomes in acute ischemic stroke patients after endovascular treatment. Methods: Data w...
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pub_type: 杂志文章
doi:10.3389/fneur.2020.00889
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abstract::Background: Perinatal and perioperative brain injury is a fundamental problem in infants with severe congenital heart disease undergoing neonatal cardiac surgery with cardiopulmonary bypass. An impaired neuromotor and neurocognitive development is encountered and associated with a reduction in quality of life. New neu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00521
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abstract::Purpose: To assess the efficacy and safety of rituximab treatment as second-line immunotherapy in pediatric cases of anti-NMDA receptor (NMDAR) encephalitis. Methods: We retrospectively recruited 8 patients with anti-NMDAR encephalitis who were treated with rituximab as second-line immunotherapy. We evaluated the clin...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.606923
更新日期:2020-12-14 00:00:00
abstract:BACKGROUND:Neurological complications are common after orthotopic liver transplantation (OLT). We aimed to characterize the risk factors associated with neurological complications and mortality among patients who underwent OLT in the post-model for end-stage liver disease (MELD) era. METHODS:In a retrospective review,...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00275
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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
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abstract::GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in GNE are pathogenic and this clinical phenotype can be difficult to differentiat...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.00942
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abstract::Background: Posterior reversible encephalopathy syndrome (PRES) is an acute neurotoxic syndrome that is characterized by a spectrum neurological and radiological feature from various risk factors. Common neurological symptoms includes headache, impairment in level of consciousness, seizures, visual disturbances, and f...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00071
更新日期:2020-02-14 00:00:00
abstract::This study was undertaken to demonstrate the vascular protection of exogenous and endogenous hydrogen sulfide (H2S) on cerebral ischemia/reperfusion (I/R) injury. The effect of H2S on cerebrovascular dysfunction in middle cerebral artery (MCA) and neuronal damage were measured after cerebral I/R induced by transient m...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00779
更新日期:2018-10-19 00:00:00
abstract::Accurate prediction of the early stage of Alzheimer's disease (AD) is important but very challenging. The goal of this study was to utilize predictors for diagnosis conversion to AD based on integrating resting-state functional MRI (rs-fMRI) connectivity analysis and structural MRI (sMRI). We included 177 subjects in ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00904
更新日期:2019-08-30 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::Cranioplasty (CP) after decompressive craniectomy (DC) for trauma is a neurosurgical procedure that aims to restore esthesis, improve cerebrospinal fluid (CSF) dynamics, and provide cerebral protection. In turn, this can facilitate neurological rehabilitation and potentially enhance neurological recovery. However, CP ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.01357
更新日期:2020-01-29 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: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for targeted enrichment and seq...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01332
更新日期:2019-12-18 00:00:00
abstract::Non-motor symptoms of Parkinson's disease (PD) have been receiving increasing attention. Approximately half of patients with PD have experience PD-related pain. We investigated the effect and mechanism of acupuncture in patients with PD who have pain. PD patients with pain were divided into acupuncture group and contr...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01114
更新日期:2019-10-22 00:00:00
abstract::Despite extensive research, the functions of the basal ganglia (BG) in movement control have not been fully understood. Eye movements, particularly saccades, are convenient indicators of BG function. Here, we review the main oculomotor findings reported in Parkinson's disease (PD) and genetic parkinsonian syndromes. P...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00592
更新日期:2017-11-09 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00948
更新日期:2018-11-13 00:00:00
abstract::Maternal smoking is a risk factor for both sudden infant death syndrome (SIDS) and sudden intrauterine unexplained death syndrome (SIUDS). Both SIDS and SIUDS are more frequently observed in infants of smoking mothers. The global prevalence of smoking during pregnancy is 1.7% and up to 8.1% of women in Europe smoke du...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.586068
更新日期:2020-10-23 00:00:00
abstract::This review begins with the history of the events starting with the death of Libby Zion that lead to the Bell Commission, that the studied her death and made recommendations for improvement that were codified into law in New York state as the 405 law that the ACGME essentially adopted in putting a cap on work hours an...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2010.00128
更新日期:2010-10-20 00:00:00
abstract::Objective: Health care personnel in Europe is increasingly involved in care of displaced persons from non-European countries; we investigated the spectrum of neurological disorders and medical management in refugees presenting to the emergency room (ER) of a German university hospital. Methods: We retrospectively stud...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01088
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01192
更新日期:2019-11-13 00:00:00
abstract::Numerous studies suggest that the increased activity of p38MAPK plays an important role in the abnormal immune and inflammatory response observed in the course of neurodegenerative diseases such as Alzheimer's disease. On the other hand, high levels of p38MAPK are present in the brain during normal aging, suggesting t...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00675
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abstract::Introduction: Persons with MS (PwMS) have markedly reduced push-off and toe-clearance during gait compared to healthy subjects (HS). These deficits may result from alterations in neuromotor control at the ankle. To optimize rehabilitation interventions for PwMS, a crucial step is to evaluate if and how altered neuromo...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00668
更新日期:2020-07-24 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:Background:Disparities in outcome after intracerebral hemorrhage (ICH) among Asians, Native Hawaiians, and other Pacific Islanders (NHOPI) have been inadequately studied. We sought to assess differences in functional outcome between Asians and NHOPI after ICH. Methods:A multiracial prospective cohort study of ICH pati...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00186
更新日期:2018-03-27 00:00:00
abstract::Background: The bidirectional interaction between the gut and brain after stroke through the immune-mediated pathway has been studied. However, the long-term effects of gut microbiota and systemic immune homeostasis after cerebral ischemia remain unclear. We examined long-term changes in the gut microbiota and systemi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00661
更新日期:2019-06-28 00:00:00
abstract::Aim: The aim of the study was to investigate the effect of the onset of Parkinson's disease (PD) on life satisfaction. Method: Data from 2008, 2011, and 2014 were used from a population-based prospective cohort (German Ageing Survey; 8,982 observations in FE regression analysis) of community-residing individuals in th...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00589
更新日期:2018-07-25 00:00:00
abstract:BACKGROUND:Parasympathetic innervation of meninges and ability of carbachol, acetylcholine (ACh) receptor (AChR) agonist, to induce headaches suggests contribution of cholinergic mechanisms to primary headaches. However, neurochemical mechanisms of cholinergic regulation of peripheral nociception in meninges, origin pl...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00163
更新日期:2017-04-27 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.01019
更新日期:2020-09-04 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.584317
更新日期:2020-10-09 00:00:00