Abstract:
:Introduction: Cerebral autosomal dominant arteriopathy and subcortical infarct leukoencephalopathy (CADASIL) is the most common form of hereditary stroke caused by a mutation in the NOTCH3 gene located on the short arm of chromosome 19. A small number of published reports describe CADASIL patients who were initially diagnosed as multiple sclerosis. Although it was previously indicated that there was no association between NOTCH3 mutations and multiple sclerosis, the involvement of autoimmune mechanisms among patients with CADASIL has been hypothesized. Case Presentation: Case 1 is a middle-aged woman with initial diagnoses of multiple sclerosis (MS) and myelitis that continued to progress despite treatment with disease-modifying agents. She had occasional migraines, transient blurred vision, and multiple lacunar infarcts. She continued treatment for about 15 years with no significant alleviation and progressive changes on brain MRI; genetic testing was ordered which showed NOTCH3 mutation, and diagnosis was changed to CADASIL with subsequent revision of treatment course. However, the presence of myelitis in this patient is unusual and may raise the question of a concurrent autoimmune process. Case 2 is a woman presenting with vertigo and paresthesia and diagnosed with MS based on an initial brain MRI showing biventricular white matter hyperintensities; however, she was not started on any disease-modifying agents. Her symptoms were reevaluated by a neurologist, and genetic testing was performed for NOTCH 3. Case 3 is a young woman with a history of migraines who initially presented with numbness and gait ataxia which later progressed to speech difficulty and memory loss. A diagnosis of MS was established which was later changed to CADASIL. Conclusion: Since CADASIL is a rare disease, it is imperative to raise awareness of its unique clinical condition as well as variation in its clinical presentations. It is crucial that the overlapping symptoms between MS and CADASIL be thoroughly examined to avoid misdiagnosis and treatment complications. The involvement of autoimmune mechanisms in CADASIL and the role of NOTCH3 gene mutations in provoking an autoimmune process should be further investigated.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Khan A,Abedi V,Li J,Malik MT,Esch M,Zand Rdoi
10.3389/fneur.2020.00860subject
Has Abstractpub_date
2020-09-04 00:00:00pages
860issn
1664-2295journal_volume
11pub_type
abstract::There is increasing evidence that neuroplastic changes can occur even years after spinal cord injury, leading to reduced disability and better health which should reduce the cost of healthcare. In motor-incomplete spinal cord injury, recovery of leg function may occur if repetitive training causes afferent input to th...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00607
更新日期:2020-06-30 00:00:00
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::A hand exoskeleton driven by myoelectric pattern recognition was designed for stroke rehabilitation. It detects and recognizes the user's motion intent based on electromyography (EMG) signals, and then helps the user to accomplish hand motions in real time. The hand exoskeleton can perform six kinds of motions, includ...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2017.00107
更新日期:2017-03-20 00:00:00
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
更新日期:2018-07-03 00:00:00
abstract::Tumors or chronic inflammatory lesions of the occipital condyle may cause occipital pain associated with an ipsilateral hypoglossal nerve injury (occipital condyle syndrome). We describe a young woman with recurrent otitis media and occipital condyle syndrome associated with a limited form of Wegener's disease. ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00053
更新日期:2012-04-12 00:00:00
abstract::Purpose: The use of optical coherence tomography (OCT) of the retina to detect inner retinal degeneration is being investigated as a potential biomarker for mild cognitive impairment (MCI) and Alzheimer's disease (AD), and an overwhelming body of evidence indicates that discovery of disease-modifying treatments for AD...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.578698
更新日期:2020-10-16 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:OBJECTIVE:Tinnitus is a common symptom of hearing impairment. Patients who are bilaterally hard of hearing are often affected by tinnitus. However, they cannot undergo any of the standard tinnitus therapies, since they rely on hearing. Cochlear implantation (CI) used to treat severe hearing disabilities, such as bilate...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00158
更新日期:2017-04-25 00:00:00
abstract::Exposure of the brain to brief, non-harmful seizures can activate protective mechanisms that temporarily generate a damage-refractory state. This process, termed epileptic tolerance, is associated with large-scale down-regulation of gene expression. Polycomb group (PcG) proteins are master controllers of gene silencin...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00046
更新日期:2015-03-10 00:00:00
abstract:OBJECTIVE:(1) To determine the brain connectivity pattern associated with clinical rigidity scores in Parkinson's disease (PD) and (2) to determine the relation between clinically assessed rigidity and quantitative metrics of motor performance. BACKGROUND:Rigidity, the resistance to passive movement, is exacerbated in...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00067
更新日期:2013-06-05 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:Introduction:Transcranial high-resolution ultrasonography reliably allows diagnosis and monitoring of intracerebral hemorrhage in adults. Sonographic monitoring of subdural hematoma (SDH) has not been evaluated in adults so far. This study investigates the reliability of transcranial gray-scale sonography (TGS) in moni...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00374
更新日期:2018-05-28 00:00:00
abstract::Introduction: It remains unclear if tau imaging may assist diagnosis of chronic traumatic encephalopathy (CTE). Flortaucipir PET has shown superior frontal with medial temporal tau binding consistent with the provisional neuropathological criteria for mid-stage CTE in group-level analyses of retired symptomatic NFL pl...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.598980
更新日期:2020-12-22 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
pub_type: 杂志文章
doi:10.3389/fneur.2020.593554
更新日期:2020-10-30 00:00:00
abstract::This study presents the first implementation of functional ultrasound (fUS) imaging of the spinal cord to monitor local hemodynamic response to epidural electrical spinal cord stimulation (SCS) on two small and large animal models. SCS has been successfully applied to control chronic refractory pain and recently was e...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00279
更新日期:2019-03-26 00:00:00
abstract::Immune-mediated pathology has been thought to be an important factor contributing to Duchenne muscular dystrophy (DMD). Allele frequencies of certain HLA types are known to differ between patients with dystrophinopathies and healthy controls with low-resolution HLA gene typing data in limit reports. Using Polymerase c...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00970
更新日期:2018-11-15 00:00:00
abstract::Perinatal hypoxic-ischemic encephalopathy (HIE) can lead to neurodevelopmental disorders, including cerebral palsy. Standard care for neonatal HIE includes therapeutic hypothermia, which provides partial neuroprotection; magnetic resonance imaging (MRI) is often used to assess injury and predict outcome after HIE. Imm...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00304
更新日期:2018-05-08 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::Despite recent advances in our understanding of consciousness disorders, accurate diagnosis of severely brain-damaged patients is still a major clinical challenge. We here present the case of a patient who was considered in an unresponsive wakefulness syndrome/vegetative state for 20 years. Repeated standardized behav...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00671
更新日期:2018-08-28 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::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
pub_type: 杂志文章
doi:10.3389/fneur.2011.00065
更新日期:2011-10-17 00:00:00
abstract::Background and Purpose: Although vertebrobasilar ectasia (VBE) is diagnosed with increasing frequency, it is not clear whether this is because of altered hemodynamics caused by the effects of matrix metalloproteinases (MMPs) and/or vertebral artery dominance (VAD). Therefore, we investigate the relationship between pl...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00931
更新日期:2020-08-25 00:00:00
abstract::Background: Better upper limb recovery after stroke could be achieved through tailoring rehabilitation interventions directly at movement deficits. Aim: To identify potential; targets for therapy by synthesizing findings of differences in kinematics and muscle activity between stroke survivors and healthy adults perfo...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00472
更新日期:2018-06-25 00:00:00
abstract::Inconclusive results have been reported in studies investigating the association between the brain-derived neurotrophic factor (BDNF) rs6265 polymorphism and migraine. In the present study, we conducted a systematic review and meta-analysis on the published data in order to quantitatively estimate the relationship bet...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00159
更新日期:2017-05-01 00:00:00
abstract::Inflammatory myositis (IM) and myasthenia gravis (MG) are both immune disorders involving muscle. The concurrent presence of both conditions in the same patient is extremely rare and the diagnosis is important and challenging. Here, we report a case of concurrent myositis and myocarditis and MG without thymoma in a 69...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00770
更新日期:2019-07-16 00:00:00
abstract::Background and Purpose: Stability stratification of intracranial aneurysms (IAs) is crucial for individualized clinical management, especially for small IAs. We aim to develop and validate a nomogram based on clinical and morphological risk factors for individualized instability stratification of small IAs. Methods: S...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.598740
更新日期:2021-01-15 00:00:00
abstract::Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00104
更新日期:2015-05-15 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
pub_type: 杂志文章
doi:10.3389/fneur.2017.00039
更新日期:2017-02-14 00:00:00
abstract::Different subtypes of Alzheimer's disease (AD) with characteristic distributions of neurofibrillary tangles and corresponding brain atrophy patterns have been identified using structural magnetic resonance imaging (MRI). However, the underlying biological mechanisms that determine this differential expression of neuro...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00524
更新日期:2019-05-28 00:00:00
abstract::Background: Phosphatidylinositol binding clathrin assembly protein (PICALM) rs541458 C allele has been identified and validated to be associated with a reduction of Alzheimer's disease (AD) risk. Nevertheless, the exact mechanisms through which the variant exert its disease-relevant association remain to be elucidated...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00494
更新日期:2019-05-08 00:00:00