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 differentiate clinically from other late-onset myopathies. We describe two families with novel mutations in GNE, and describe their clinical and MRI features. We also describe the presence of striking paraspinal muscle involvement on MRI of the lumbar spine, which is an under-recognized feature of GNE myopathy.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Soule T,Phan C,White C,Resch L,Lacson A,Martens K,Pfeffer Gdoi
10.3389/fneur.2018.00942subject
Has Abstractpub_date
2018-11-08 00:00:00pages
942issn
1664-2295journal_volume
9pub_type
abstract::Investigation of the perception of verticality permits to disclose the perceptual mechanisms that underlie balance control and spatial navigation. Estimation of verticality in unusual body orientation with respect to gravity (e.g., laterally tilted in the roll plane) leads to biases that change depending on the encodi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01151
更新日期:2019-01-07 00:00:00
abstract::A carotid-jugular fistula is a direct communication between the carotid artery and the jugular vein. Both congenital and spontaneous internal carotid-jugular fistulas are extremely rare. We describe the first case of successful endovascular treatment for a congenital internal carotid-jugular fistula. We report a 64-ye...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.01118
更新日期:2018-12-18 00:00:00
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 gen...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01387
更新日期:2020-01-23 00:00:00
abstract::Multiple sclerosis (MS) and its animal model experimental autoimmune encephalomyelitis (EAE) are neurodegenerative diseases with characteristic inflammatory demyelination in the central nervous system, including the optic nerve. Neuronal and axonal damage is considered to be the main cause of long-term disability in p...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2011.00050
更新日期:2011-08-02 00:00:00
abstract::The evidence demonstrating the benefits of exercise is indisputable for healthy subjects, and more recently, it is growing for Parkinson's disease (PD) patients. Due to its easy access, low cost, social facilitation and, above all, the symptomatic effect, clinical exercise may have a profound impact on PD management. ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00228
更新日期:2020-04-02 00:00:00
abstract::Background and Aim: Reliable, valid and sensitive measures of dual-task-associated impairments in patients with Parkinson's disease (PD) may reveal progressive deficits unnoticed under single-task walking. The aim of this study was to quantitatively identify markers of progressive gait deficits in idiopathic PD while ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00372
更新日期:2019-05-14 00:00:00
abstract::Increasing evidence suggests an association between gastrointestinal (GI) disorders and susceptibility and progress of Parkinson's disease (PD). Gut-brain axis has been proposed to play important roles in the pathogenesis of PD, though the exact pathophysiologic mechanism has yet to be elucidated. Here, we discuss the...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00849
更新日期:2020-08-25 00:00:00
abstract::Background: Electrical Status Epilepticus in Sleep (ESES) is an epileptic encephalopathy syndrome characterized by infrequent clinical seizures and prominent interictal burden during slow wave sleep associated with cognitive deficits and behavioral dysfunction. Medical treatment with anti-epileptic drugs is often unsu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01397
更新日期:2020-01-15 00:00:00
abstract::It is well-recognized that the gut microbiota (GM) is crucial for gut function, metabolism, and energy cycles. The GM also has effects on neurological outcomes via many mechanisms, such as metabolite production and the gut-brain axis. Emerging evidence has gradually indicated that GM dysbiosis plays a role in several ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.01155
更新日期:2019-11-06 00:00:00
abstract:BACKGROUND AND PURPOSE:The presence of aortic atherosclerosis is an independent risk factor for secondary stroke. The present study was designed to have an initial exploration of the correlation between the load and extent of aortic atheroma (AA) and initial stroke severity or clinical outcome 3 months after stroke. M...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2011.00018
更新日期:2011-03-21 00:00:00
abstract::We sought to investigate (1) the characteristics of epileptiform discharge (ED) duration and interdischarge interval (IDI) and (2) the influence of vigilance state on the ED duration and IDI in genetic generalized epilepsy (GGE). In a cohort of patients diagnosed with GGE, 24-h ambulatory EEG recordings were performed...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00036
更新日期:2018-02-19 00:00:00
abstract::Background: Caregiver strain is recognized globally with Parkinson's disease (PD). Comparatively little is understood about caregiver burden and strain in Asia. Objective: To investigate caregiver strain for families living with PD in Singapore, in light of international data. Methods: Ninety-four caregivers were recr...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00455
更新日期:2020-06-23 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:UNLABELLED:α(2)-adrenoceptors (AR) lower central sympathetic output and peripheral catecholamine release, thereby protecting against sympathetic hyperactivity and hypertension. Norepinephrine re-uptake-transporter effectively (NET) removes norepinephrine from the synapse. Overflow to plasma will therefore not reflect r...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00160
更新日期:2012-11-08 00:00:00
abstract::Aims: To examine trajectories of employment probability up to 10 years following moderate-to-severe traumatic brain injury (TBI) and identify significant predictors from baseline socio-demographic and injury characteristics. Methods: A longitudinal observational study followed 97 individuals with moderate-to-severe TB...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01051
更新日期:2018-12-05 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::Alzheimer's disease is the most common neurodegenerative form of dementia that steadily worsens and eventually leads to death. Its set of symptoms include loss of cognitive function and memory decline. Structural and functional imaging methods such as CT, MRI, and PET scans play an essential role in the diagnosis proc...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00647
更新日期:2017-12-07 00:00:00
abstract::Introduction: Myelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG)-related disease was initially described as a subtype of neuromyelitis optica spectrum disorder (NMOSD) with antibodies against MOG. However, it has recently been described as a separate disease entity with clinical and radiological features t...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00089
更新日期:2020-02-26 00:00:00
abstract::Background: The forefront treatment of Parkinson's disease (PD) is Levodopa. When patients are treated with Levodopa cerebral blood flow is increased while cerebral metabolic rate is decreased in key subcortical regions including the putamen. This phenomenon is especially pronounced in patients with Levodopa-induced d...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01217
更新日期:2019-11-21 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: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
更新日期:2014-12-17 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::There is a need for biomarkers for amyotrophic lateral sclerosis (ALS), to support the diagnosis of the disease, to predict disease progression and to track disease activity and treatment responses. Over the last decade multiple studies have investigated the potential of neurofilament levels, both in cerebrospinal flu...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.01167
更新日期:2019-01-18 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::Disrupted sleep is more common in older adults (OLD) than younger adults (YOUNG), often co-morbid with other conditions. How these sleep disturbances affect cognitive performance is an area of active study. We examined whether brain activation during verbal encoding correlates with sleep quantity and quality the night...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00049
更新日期:2012-04-03 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::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::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 AND AIM:The availability and access of hospital administrative data [coding for Charlson comorbidity index (CCI)] in large data form has resulted in a surge of interest in using this information to predict mortality from stroke. The aims of this study were to determine the minimum clinical data set to be inc...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00192
更新日期:2017-05-19 00:00:00
abstract::Background: Early imaging-based treatment response assessment of brain metastases following stereotactic radiosurgery (SRS) remains challenging. The aim of this study is to determine whether early (within 12 weeks) intratumoral changes in interstitial fluid pressure (IFP) and velocity (IFV) estimated from computationa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00402
更新日期:2020-05-28 00:00:00