New-Onset Refractory Status Epilepticus with Claustrum Damage: Definition of the Clinical and Neuroimaging Features.

abstract：:Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis. Methods: We performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 and 2...

journal_title：Frontiers in neurology

authors： González-Del Angel A,Bisciglia M,Vargas-Cañas S,Fernandez-Valverde F,Kazakova E,Escobar RE,Romero NB,Jardel C,Rucheton B,Stojkovic T,Malfatti E

更新日期：2019-10-04 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

authors： Amoozegar F,Ronksley PE,Sauve R,Menon BK

更新日期：2015-02-02 00:00:00

abstract：:Background: Following aneurysmal subarachnoid hemorrhage, peripherally-drawn lactic acid has been associated with poor outcomes; however, its clinical significance is unknown. We investigated admission factors and patient outcomes associated with serum lactic acid in this population. Methods: This was a retrospective ...

journal_title：Frontiers in neurology

authors： Poblete RA,Cen SY,Zheng L,Emanuel BA

更新日期：2018-07-23 00:00:00

abstract：:Background: Data on clinical presentation of Hemiplegic Migraine (HM) are quite limited in the literature, particularly in the pediatric age. The aim of the present study is to describe in detail the phenotypic features at onset and during the first years of disease of sporadic (SHM) and familial (FHM) pediatric hemip...

journal_title：Frontiers in neurology

authors： Toldo I,Brunello F,Morao V,Perissinotto E,Valeriani M,Pruna D,Tozzi E,Moscano F,Farello G,Frusciante R,Carotenuto M,Lisotto C,Ruffatti S,Maggioni F,Termine C,Di Rosa G,Nosadini M,Sartori S,Battistella PA

更新日期：2019-10-15 00:00:00

abstract：:We report a case of spontaneous intracerebral hemorrhage (sICH) due to delta storage pool disease in a 60-year-old female on a serotonin-norepinephrine reuptake inhibitor (SNRI). Increased susceptibility to SNRI-effects on hemostasis was due to a genetic disposition mediated by a polymorphism of the SLC6A4 gene coding...

journal_title：Frontiers in neurology

authors： Leibetseder A,Wagner J,Tomasits J,Haring HP,Hutterer M,Trenkler J,von Oertzen TJ

更新日期：2019-11-26 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

authors： Parnandi A,Uddin J,Nilsen DM,Schambra HM

更新日期：2019-09-18 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

authors： Chao YX,Gulam MY,Chia NSJ,Feng L,Rotzschke O,Tan EK

更新日期：2020-08-25 00:00:00

abstract：:Traumatic brain injury (TBI) and the activation of secondary injury mechanisms have been linked to impaired cognitive function, which, as observed in TBI patients and animal models, can persist for months and years following the initial injury. Impairments in neurotransmission have been well documented in experimental...

journal_title：Frontiers in neurology

authors： Carlson SW,Henchir J,Dixon CE

更新日期：2017-10-10 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

authors： Winter L,Moriarty H,Robinson K

更新日期：2019-03-15 00:00:00

abstract：:Rett Syndrome (RTT) is a neurodevelopmental disorder caused by loss of function of the transcriptional regulator Methyl-CpG-Binding Protein 2 (MeCP2). In addition to the characteristic loss of hand function and spoken language after the first year of life, people with RTT also have a variety of physiological and auton...

journal_title：Frontiers in neurology

authors： Ward CS,Huang TW,Herrera JA,Samaco RC,McGraw CM,Parra DE,Arvide EM,Ito-Ishida A,Meng X,Ure K,Zoghbi HY,Neul JL

更新日期：2020-10-30 00:00:00

abstract：:Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory. Monitoring OTCD progression and investigating neurocognitive bio...

journal_title：Frontiers in neurology

authors： Anderson AA,Gropman A,Le Mons C,Stratakis CA,Gandjbakhche AH

更新日期：2020-08-14 00:00:00

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

authors： Xiao ZZ,Wang ZF,Lan T,Huang WH,Zhao YH,Ma C,Li ZQ

更新日期：2020-09-17 00:00:00

abstract：:Thalamotomy at the ventralis intermedius nucleus has been an effective treatment method for essential tremor, but how the brain network changes immediately responding to this deliberate lesion and then reorganizes afterwards are not clear. Taking advantage of a non-cranium-opening MRI-guided focused ultrasound ablatio...

journal_title：Frontiers in neurology

authors： Jang C,Park HJ,Chang WS,Pae C,Chang JW

更新日期：2016-10-24 00:00:00

abstract：:Objectives: To assess the ability of 3D amide proton transfer weighted (APTw) imaging based on magnetization transfer analysis to discriminate between multiple sclerosis lesions (MSL) and white matter hyperintensities of presumed vascular origin (WMH) and to compare APTw signal intensity of healthy white matter (healt...

journal_title：Frontiers in neurology

authors： Sartoretti E,Sartoretti T,Wyss M,Becker AS,Schwenk Á,van Smoorenburg L,Najafi A,Binkert C,Thoeny HC,Zhou J,Jiang S,Graf N,Czell D,Sartoretti-Schefer S,Reischauer C

更新日期：2019-12-10 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

authors： Nakagawa K,King SL,Seto TB,Mau MKLM

更新日期：2018-03-27 00:00:00

abstract：:Qualitative clinical assessments of the recovery of awareness after severe brain injury require an assessor to differentiate purposeful behavior from spontaneous behavior. As many such behaviors are minimal and inconsistent, behavioral assessments are susceptible to diagnostic errors. Advanced neuroimaging tools can b...

journal_title：Frontiers in neurology

authors： Rupawala M,Dehghani H,Lucas SJE,Tino P,Cruse D

更新日期：2018-05-22 00:00:00

abstract：:Tadpole pupil is a rare phenomenon in which segmental spasm of the iris dilator muscle results in a tadpole-shaped pupil. The pupillary distortion is usually unilateral, lasts several minutes, and can recur in clusters. Any segment of the iris can be affected; thus, for some patients, a different-shaped tadpole pupil ...

journal_title：Frontiers in neurology

authors： Udry M,Kardon RH,Sadun F,Kawasaki A

更新日期：2019-08-19 00:00:00

abstract：:The vestibulo-ocular reflex (VOR) consists of two components, the rotational VOR (rVOR) elicited by semicircular canal signals and the translational VOR (tVOR) elicited by otolith signals. Given the relevant role of the vertical tVOR in human walking, this study aimed at measuring the time delay of eye movements in re...

journal_title：Frontiers in neurology

authors： Kutz DF,Kolb FP,Glasauer S,Straka H

更新日期：2020-05-14 00:00:00

abstract：:Background: Chronic progressive neurological diseases like high grade glioma (HGG), Parkinson's disease (PD), and multiple sclerosis (MS) are incurable, and associated with increasing disability including cognitive impairment, and reduced life expectancy. Patients with these diseases have complex care needs. Therefore...

journal_title：Frontiers in neurology

authors： Walter HAW,Seeber AA,Willems DL,de Visser M

更新日期：2019-01-14 00:00:00

abstract：:Successful implementation of a randomized clinical trial (RCT) for neuro-vascular emergencies such as cerebral infarction, intracerebral hemorrhage, or subarachnoid hemorrhage is extraordinarily challenging. Besides establishing an accurate, hyper-expedited diagnosis among many mimics in a person with acute neurologic...

journal_title：Frontiers in neurology

authors： Rose DZ,Kasner SE

更新日期：2011-10-17 00:00:00

abstract：:Background: Prolonged static whole-body roll-tilt has been shown to bias estimates of the direction of gravity when assessed by static paradigms such as the subjective visual vertical and the subjective haptic vertical. Objective: We hypothesized that these shifts are paradigm-independent and thus predicted a post-til...

journal_title：Frontiers in neurology

authors： Wedtgrube A,Bockisch CJ,Straumann D,Tarnutzer AA

更新日期：2020-10-15 00:00:00

abstract：OBJECTIVE:Rotational vestibular function declines with age resulting in saccades as a compensatory mechanism to improve impaired gaze stability. Small reductions in rotational vestibulo-ocular reflex (VOR) gain that would be considered clinically normal have been associated with compensatory saccades. We evaluated whet...

journal_title：Frontiers in neurology

authors： Anson ER,Bigelow RT,Carey JP,Xue QL,Studenski S,Schubert MC,Weber KP,Agrawal Y

更新日期：2016-07-18 00:00:00

abstract：:There is increasing evidence for hippocampal involvement in Amyotrophic Lateral Sclerosis (ALS). Recent neuroimaging studies have been focused on disease-related hippocampal volume alterations while changes in hippocampal shape have been investigated less frequently. Here, we aimed to characterize the patterns of hipp...

journal_title：Frontiers in neurology

authors： Machts J,Vielhaber S,Kollewe K,Petri S,Kaufmann J,Schoenfeld MA

更新日期：2018-07-20 00:00:00

abstract：:A synthetic peptide with antisecretory activity, antisecretory factor (AF)-16, improves injury-related deficits in water and ion transport and decreases intracranial pressure after experimental cold lesion injury and encephalitis although its role in traumatic brain injury (TBI) is unknown. AF-16 or an inactive refere...

journal_title：Frontiers in neurology

authors： Clausen F,Hansson HA,Raud J,Marklund N

更新日期：2017-02-14 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in DMD. A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chinese national dystrop...

journal_title：Frontiers in neurology

authors： Tong YR,Geng C,Guan YZ,Zhao YH,Ren HT,Yao FX,Ling C,Wang DC,Chen L,Cui LY,Zhang SY,Dai Y

更新日期：2020-09-30 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

authors： Pretegiani E,Optican LM

更新日期：2017-11-09 00:00:00

abstract：:Disrupted development of oropharyngeal structures as well as cranial nerve and brainstem circuits may lead to feeding and swallowing difficulties in children with 22q11. 2 deletion syndrome (22q11DS). We previously demonstrated aspiration-based dysphagia during early postnatal life in the LgDel mouse model of 22q11DS ...

journal_title：Frontiers in neurology

authors： Welby L,Caudill H,Yitsege G,Hamad A,Bunyak F,Zohn IE,Maynard T,LaMantia AS,Mendelowitz D,Lever TE

更新日期：2020-01-31 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

authors： Urata Y,Nakamura M,Shiokawa N,Yasuniwa A,Takamori N,Imamura K,Hayashi T,Ishizuka T,Kasugai M,Sano A

更新日期：2020-02-14 00:00:00

abstract：:Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's disease) trait. Both types are caused by loss-of-function mutations i...

journal_title：Frontiers in neurology

authors： Altamura C,Ivanova EA,Imbrici P,Conte E,Camerino GM,Dadali EL,Polyakov AV,Kurbatov SA,Girolamo F,Carratù MR,Desaphy JF

更新日期：2020-09-04 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

authors： Castellazzi M,Ligi D,Contaldi E,Quartana D,Fonderico M,Borgatti L,Bellini T,Trentini A,Granieri E,Fainardi E,Mannello F,Pugliatti M

更新日期：2018-12-18 00:00:00