Abstract:
:X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-ALD. The 19-year-old proband had presented with atypical symptoms of adrenomyeloneuropathy (AMN) for 3 years, only with spastic paraparesis, cerebellar ataxia, and cerebellar atrophy with white matter hyperintensity. It is rare for an AMN male patient to present the initial symptoms at such an early age with the adrenal function, sphincter function, and dorsal column of the spinal cord spared. He is also the youngest male AMN patient reported to have cerebellar ataxia. His mother also presented unusually early onset of the similar manifestations. A novel variant c.1144A>C (p.Thr382Pro) in exon 3 of the ABCD1 gene was identified. Family study involving the grandparents of the proband revealed the de novo occurrence of the variant in the mother.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Chen Y,Zhang J,Wang J,Wang Kdoi
10.3389/fneur.2018.00271subject
Has Abstractpub_date
2018-04-23 00:00:00pages
271issn
1664-2295journal_volume
9pub_type
abstract::Background and Objective: One-third of ischemic strokes have no identifiable cause following standard evaluation. In 2014, researchers have proposed the concept of Embolic Stroke of Undetermined Source (ESUS). The purpose of this study was to report the clinical characteristics of ESUS and its difference from cardioge...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00058
更新日期:2020-02-05 00:00:00
abstract::Objective: To investigate an MRI-based etiological classification for acute isolated pontine infarcts and to assess differences in vascular risk factors, clinical characteristics and WMH burden among the etiological subtypes. Methods: All participants from SMART cohort with DWI-proven acute isolated pontine infarcts (...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00840
更新日期:2018-10-09 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: Magnetic resonance imaging is a key diagnostic and monitoring tool in multiple Sclerosis (MS). While the substrates of motor and neuropsychological symptoms in MS have been extensively investigated, nystagmus-associated imaging signatures are relatively under studied. Accordingly, the objective of this stu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00691
更新日期:2018-08-23 00:00:00
abstract::Botulinum NeuroToxin-A (BoNT-A) injections to the medial gastrocnemius (MG) and lower-leg casts are commonly combined to treat ankle equinus in children with spastic cerebral palsy (CP). However, the decomposed treatment effects on muscle or tendon structure, stretch reflexes, and joint are unknown. In this study, BoN...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00210
更新日期:2020-04-21 00:00:00
abstract::Objective: To explore the clinical features and correlates of excessive daytime sleepiness (EDS) in a Chinese population of Parkinson's disease (PD) patients. Methods: Patients with clinically established or clinically probable PD were recruited. Clinical and demographic data were collected, and participants were eval...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00121
更新日期:2019-02-19 00:00:00
abstract::Acute ischemic stroke is a devastating disease that is often complicated by hemorrhagic transformation. While significant advances have been made over the past two decades with regard to emergent treatment of AIS, many of the therapeutic options are limited by an increased risk of hemorrhage. Here, we sought to review...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00069
更新日期:2013-06-10 00:00:00
abstract::Introduction: Symptoms following a mild traumatic brain injury (mTBI) usually resolve quickly but may persist past 3 months in up to 15% of children. Mechanisms of mTBI recovery are poorly understood, but may involve alterations in cortical neurophysiology. Transcranial Magnetic Stimulation (TMS) can non-invasively in...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00451
更新日期:2019-05-17 00:00:00
abstract::Intensive glycemic control has not shown consistent findings in stroke prevention for diabetes patients, particularly for those with microvascular complications. This case-control study evaluates the risks of stroke in Asian diabetic population with microvascular complications. From the insurance claims of Taiwan, we ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00719
更新日期:2018-08-29 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::Traumatic brain injury (TBI) is a major health concern worldwide. Laboratory studies utilizing animal models of TBI are essential for addressing pathological mechanisms of brain injury and development of innovative treatments. Over the past 75 years, pioneering head injury researchers have devised and tested a number ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2016.00217
更新日期:2016-12-02 00:00:00
abstract::Hemorrhagic cerebrovascular disease in the pediatric population can have devastating and long-term effects. Progress in the fields of genetics, neuroimaging, pharmacology, and surgical techniques has led to improved diagnosis and management of pediatric cerebrovascular diseases. In this review we discuss the current e...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.01055
更新日期:2020-09-17 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::Obstructive sleep apnea (OSA) is recurrent obstruction of the upper airway during sleep leading to intermittent hypoxia (IH). OSA has been associated with all components of the metabolic syndrome as well as with non-alcoholic fatty liver disease (NAFLD). NAFLD is a common condition ranging in severity from uncomplicat...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00149
更新日期:2012-10-17 00:00:00
abstract::Studies of traumatic brain injury from all causes have found evidence of chronic hypopituitarism, defined by deficient production of one or more pituitary hormones at least 1 year after injury, in 25-50% of cases. Most studies found the occurrence of posttraumatic hypopituitarism (PTHP) to be unrelated to injury sever...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00011
更新日期:2012-02-07 00:00:00
abstract::Objective: The aim of the present observational study is to report on the data from a large sample of inpatients, clinical staff and other workers at an Italian neurorehabilitation hospital dealing with SARS-CoV-2 infections, in order to analyze how it might have affected the management and the effectiveness of neuror...
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
abstract:OBJECTIVE:Evaluate medical students' communication and professionalism skills from the perspective of the ambulatory patient and later compare these skills in their first year of residency. METHODS:Students in third year neurology clerkship clinics see patients alone followed by a revisit with an attending neurologist...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00098
更新日期:2012-06-20 00:00:00
abstract::The incidence of traumatic brain injuries (TBI) in the US has reached epidemic proportions with well over 2 million new cases reported each year. TBI can occur in both civilians and warfighters, with head injuries occurring in both combat and non-combat situations from a variety of threats, including ballistic penetra...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00089
更新日期:2015-05-07 00:00:00
abstract::Objective: To determine whether performance in a virtual spatial navigational task is poorer in persistent postural perceptual dizziness (PPPD) patients than in healthy volunteers and patients suffering other vestibular disorders. Methods: Subjects were asked to perform three virtual Morris water maze spatial navigati...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01361
更新日期:2020-01-09 00:00:00
abstract::Background: Cervical dystonia (CD) is a rare disorder, and health care providers might be unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of awareness displays the need to highlight the clinical features and treatment in cervical dystonia. In our cohort, we have identified an...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.591418
更新日期:2020-11-27 00:00:00
abstract:BACKGROUND:Hemiparesis after stroke typically results in a reduced walking speed, an asymmetrical gait pattern and a reduced ability to make gait adjustments. The purpose of this pilot study was to investigate the feasibility and preliminary efficacy of home-based training involving auditory cueing of stepping in place...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00412
更新日期:2017-08-22 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::Hyperbaric oxygen (HBO) therapy has been suggested a treatment option in order to reduce the development of secondary insults succeeding traumatic brain injury. This case report studied the course of a 23-year-old gentleman with a close range transhemispheric gunshot wound. The biochemical parameters, using a multi-mo...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00062
更新日期:2015-03-23 00:00:00
abstract::Huntington's disease (HD) is an autosomal dominant neurodegenerative genetic disorder characterized by motor, cognitive, and psychiatric symptoms. It is well established that regular physical activity supports brain health, benefiting cognitive function, mental health as well as brain structure and plasticity. Exercis...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00516
更新日期:2017-09-27 00:00:00
abstract::Resting-state imaging designs are powerful in modeling functional networks in movement disorders because they eliminate task performance related confounds. However, the most common metric for quantifying functional connectivity, i.e., bivariate magnitude coherence (Coh), can sometimes be contaminated by spurious corre...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00149
更新日期:2013-10-10 00:00:00
abstract::Semicircular canal afferents sense angular acceleration and output angular velocity with a short time constant of ≈4.5 s. This output is prolonged by a central integrative network, velocity storage that lengthens the time constants of eye velocity. This mechanism utilizes canal, otolith, and visual (optokinetic) infor...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00386
更新日期:2017-08-16 00:00:00
abstract::Formulaic expressions naturally convey affective content. The unique formal and functional characteristics of idioms, slang, expletives, proverbs, conversational speech formulas, and the many other conventional expressions in this repertory have been well-described: these include unitary form, conventionalized and non...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00573
更新日期:2018-07-24 00:00:00
abstract::Objective: To investigate the effects of low frequency transcranial magnetic stimulation (LF-rTMS) combined with motor imagery (MI) on upper limb motor function during stroke rehabilitation. Background: Hemiplegic upper extremity activity obstacle is a common movement disorder after stroke. Compared with a single inte...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00096
更新日期:2019-02-19 00:00:00
abstract::For epileptic patients requiring resective surgery, a modality called stereo-electroencephalography (SEEG) may be used to monitor the patient's brain signals to help identify epileptogenic regions that generate and propagate seizures. SEEG involves the insertion of multiple depth electrodes into the patient's brain, e...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.605696
更新日期:2021-01-06 00:00:00
abstract::Background: Ischemic stroke patients show alterations in peripheral leukocyte counts that may result from the sterile inflammation response as well as the occurrence of early infections. We here aimed to determine whether alterations of circulating leukocytes in acute ischemic stroke are associated with long-term func...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00201
更新日期:2020-04-03 00:00:00