Abstract:
:Background: Spinal and Bulbar Muscular Atrophy (SBMA) is caused by the extension of the polyglutamine tract within the androgen receptor (AR) gene, and results in a multisystem presentation, including the degeneration of lower motor neurons. The androgen receptor (AR) is known to modulate the expression of endogenous retrovirus-K (ERVK), a pathogenic viral genomic symbiont. Since ERVK is associated with motor neuron disease, such as Amyotrophic Lateral Sclerosis (ALS), we sought to determine if patients with SBMA exhibit evidence of ERVK reactivation. Results: Data from a pilot study demonstrate that peripheral blood mononuclear cell (PBMC) samples from controls and patients with SBMA were examined ex vivo for the expression of ERVK viral transcripts and proteins. No differences in ERVK RNA expression was observed between the clinical groups. In contrast, enhancement of processed ERVK Gag and integrase proteins were observed in SBMA-derived PBMC as compared to healthy control specimens. Increased ERVK protein maturation co-occurred with elevation in the expression of the pro-inflammatory transcription factor IRF1 in SBMA. Conclusions: Our findings indicate that ERVK viral protein maturation in SBMA is an unrecognized biomarker and facet of the disease. We discuss how our current understanding of ERVK-driven pathology may tie into key aspects of multi-system dysfunction in SBMA, with a focus on inflammation, proteinopathy, as well as DNA damage and repair.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Rex C,Nadeau MJ,Douville R,Schellenberg Kdoi
10.3389/fneur.2019.00968subject
Has Abstractpub_date
2019-09-04 00:00:00pages
968issn
1664-2295journal_volume
10pub_type
杂志文章abstract::Background and Objective: Parkinson disease (PD) with rapid eye movement (REM) sleep behavior disorder (PD-RBD) tend to be a distinct phenotype with more severe clinical characteristics and pathological lesion when compared with PD without RBD (PD-nRBD). However, the pathological mechanism underlying PD-RBD remains un...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.563624
更新日期:2020-10-27 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::Melodic intonation therapy (MIT) is a treatment program for the rehabilitation of aphasic patients with speech production disorders. We report a case of severe chronic non-fluent aphasia unresponsive to several years of conventional therapy that showed a marked improvement following intensive 9-day training on the Jap...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2016.00148
更新日期:2016-09-19 00:00:00
abstract::In task-specific focal hand dystonia (tspFHD), the temporal dynamics of cortical activity in the motor system and how these processes are related to impairments in sensory and motor function are poorly understood. Here, we use time-frequency reconstructions of magnetoencephalographic (MEG) data to elaborate the tempor...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00165
更新日期:2012-11-28 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::Introduction: Mitochondrial myopathy in children has notable clinical and genetic heterogeneity, but detailed data is lacking. Patients and Methods: In this study, we retrospectively reviewed the clinical presentation, laboratory investigation, genetic and histopathological characteristics, and follow-ups of 21 pediat...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.01000
更新日期:2020-09-08 00:00:00
abstract:Background:Visual impairment affects up to 70% of stroke survivors. We designed an app (StrokeVision) to facilitate screening for common post stroke visual issues (acuity, visual fields, and visual inattention). We sought to describe the test time, feasibility, acceptability, and accuracy of our app-based digital visua...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00146
更新日期:2018-03-28 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::To interact successfully with an uncertain environment, organisms must be able to respond to both unanticipated and anticipated events. For unanticipated events, organisms have evolved stereotyped motor behaviors mapped to the statistical regularities of the environment, which can be trigged by specific sensory stimul...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00924
更新日期:2018-10-30 00:00:00
abstract::Recent advances in wearable sensor technology and machine learning (ML) have allowed for the seamless and objective study of human motion in clinical applications, including Parkinson's disease, and stroke. Using ML to identify salient patterns in sensor data has the potential for widespread application in neurologica...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00996
更新日期:2019-09-18 00:00:00
abstract::Primary progressive aphasia (PPA) is a neurodegenerative disease characterized by declining language ability. However, the difficulty in defining the central clinical features in its earliest stage and establishing the dynamics of its progression has led to controversy. We report a 71-year-old man with Han language su...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.00075
更新日期:2018-02-16 00:00:00
abstract::Psychophysiological investigations of traumatic brain injury (TBI) are being conducted for several reasons, including the objective of learning more about the underlying physiological mechanisms of the pathological processes that can be initiated by a head injury. Additional goals include the development of objective ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00091
更新日期:2013-07-22 00:00:00
abstract::Dizziness and imbalance are clinically poorly defined terms, which affect ~30% of people over 65 years of age. In these people, it is often difficult to define the primary cause of dizziness, as it can stem from cardiovascular, vestibular, psychological, and neuromuscular causes. However, identification of the primary...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00268
更新日期:2015-12-24 00:00:00
abstract::Background: Matrix metalloproteinases (MMPs) are pleiotropic enzymes involved in extracellular protein degradation and turnover. MMPs are implicated in the pathogenesis of many neurological diseases, including multiple sclerosis (MS). Objective: To search the level of MMPs in the cerebrospinal fluid (CSF) of MS patien...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01080
更新日期:2018-12-18 00:00:00
abstract::Background: For the preoperatively often required confirmation of clinically defined carpal tunnel syndrome (CTS), sensory as well as motor nerve conduction studies can be applied. The aim of this study was to test the sensitivity of specific motor nerve conduction tests in comparison with, as well as in addition to, ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00149
更新日期:2019-03-14 00:00:00
abstract::Background: The leading cause of death in China is stroke, a condition that also contributes heavily to the disease burden. Nontraumatic intracerebral hemorrhage (ICH) is the second most common cause of stroke. Compared to Western countries, in China the proportion of ICH is significantly higher. Standardized treatmen...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01091
更新日期:2018-12-11 00:00:00
abstract::The dopamine (DA) precursor l-DOPA has been the most effective treatment for Parkinson's disease (PD) for over 40 years. However, the response to this treatment changes with disease progression, and most patients develop dyskinesias (abnormal involuntary movements) and motor fluctuations within a few years of l-DOPA t...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2014.00242
更新日期:2014-12-15 00:00:00
abstract::Between seizures, irritative network generates frequent brief synchronous activity, which manifests on the EEG as interictal epileptiform discharges (IEDs). Recent insights into the mechanism of IEDs at the microscopic level have demonstrated a high variance in the recruitment of neuronal populations generating IEDs a...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00184
更新日期:2018-03-23 00:00:00
abstract::The therapy of focal epilepsy remains unsatisfactory for as many as 25% of patients. The photolysis of caged-γ-aminobutyric acid (caged-GABA) represents a novel and alternative option for the treatment of intractable epilepsy. Our previous experimental results have demonstrated that the use of blue light produced by l...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00215
更新日期:2017-05-18 00:00:00
abstract::Background and Purpose: Patients with large vessel occlusion stroke (LVOS) need to be rapidly identified and transferred to comprehensive stroke centers (CSC). However, previous pre-hospital strategy remains challenging. We aimed to develop a modified scale to better predict LVOS. Methods: We retrospectively reviewed ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00390
更新日期:2019-04-17 00:00:00
abstract::Autism Spectrum Disorders comprise conditions that may affect cognitive development, motor skills, social interaction, communication, and behavior. This set of functional deficits often results in lack of independence for the diagnosed individuals, and severe distress for patients, families, and caregivers. There is a...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01145
更新日期:2019-10-31 00:00:00
abstract::Recent studies have demonstrated that exosomal microRNAs (miRNAs) are novel biomarkers and therapeutic targets for various diseases including vascular disease. However, specific exosomal miRNAs expression in stroke patients has not been reported yet. Here, we explored whether circulating exosomal miRNAs can serve as p...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00057
更新日期:2017-02-27 00:00:00
abstract::We previously reported that persistent application of the non-specific cholinergic agonist carbachol (CAR) increased the frequency of calcium channel-mediated oscillatory activity in pedunculopontine nucleus (PPN) neurons, which we identified as dependent on voltage-gated, high-threshold P/Q-type channels. Here, we te...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00176
更新日期:2013-11-06 00:00:00
abstract::Introduction: Mutations in the Parkin gene are the most common cause of autosomal recessive early-onset Parkinson's disease (PD). However, little is known about the quality of life (QoL) in Parkin-related PD. Here, we investigated the patterns of QoL in newly diagnosed Parkin-related PD patients. Methods: Newly diagno...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.580910
更新日期:2020-12-18 00:00:00
abstract::Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1). Mild intellectual deficits presented in many patients with DM1. In addition, psychosocial iss...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00012
更新日期:2020-02-14 00:00:00
abstract:BACKGROUND:Before implementation in clinical practice, biomarker assays need to be thoroughly analytically validated. There is currently a strong interest in implementation of the ratio of amyloid-β peptide 1-42 and 1-40 (Aβ42/Aβ40) in clinical routine. Therefore, in this study, we compared the analytical performance o...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00310
更新日期:2017-07-03 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::We describe and evaluate a pre-processing method based on a periodic spiral sampling of diffusion-gradient directions for high angular resolution diffusion magnetic resonance imaging. Our pre-processing method incorporates prior knowledge about the acquired diffusion-weighted signal, facilitating noise reduction. Peri...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00290
更新日期:2015-01-12 00:00:00
abstract::Ischemic stroke is one of the leading causes for death and disability worldwide. In patients with large space-occupying infarction, the subsequent edema complicated by transtentorial herniation poses a lethal threat. Especially in patients with malignant middle cerebral artery infarction, brain swelling secondary to t...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.01119
更新日期:2019-01-09 00:00:00
abstract:Background:Previous studies demonstrated that cardioembolism (CE) was prone to develop hemorrhagic transformation (HT), whereas hyper-permeability of blood-brain barrier (BBB) might be one reason for the development of HT. We, thus, aimed to investigate whether the BBB permeability (BBBP) was higher in CE stroke than o...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00055
更新日期:2018-02-08 00:00:00