Abstract:
:We describe the case of one patient with pure sporadic hemiplegic migraine (SHM) with a novel ATP1A2 gene variant and a large patent foramen ovale (PFO) with atrial septal aneurysm. In hemiplegic migraine (HM), the relationship between incomplete penetrance, environmental triggers, and phenotypic expression is underdetermined. A genetic evaluation of the proband was requested for the HM associated genes and extended to the members of his family. Genetic analysis revealed a never described before ATP1A2 gene mutation, inherited by his father, who never experienced motor aura but only typical visual aura. The proband-but not his father-was also affected by a large PFO with atrial septal aneurysm. SHM patient showed a marked reduction in motor aura episodes per year in the 12 months following the PFO percutaneous closure, followed by a complete remission from attacks at least in the following 24 months. We speculated that as well as incomplete penetrance of the novel mutation and natural history of the disease, an additional pathological condition such as the PFO could contribute to the phenotypical expression in this case of HM.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Perrotta A,Gambardella S,Ambrosini A,Anastasio MG,Albano V,Fornai F,Pierelli Fdoi
10.3389/fneur.2018.00332subject
Has Abstractpub_date
2018-05-17 00:00:00pages
332issn
1664-2295journal_volume
9pub_type
abstract::Takotsubo cardiomyopathy (TTC) is an acute and reversible cardiac wall motion abnormality of the left myocardium. Although many studies focused on etiology, diagnostic and treatment of TTC, precise clinical guidelines on TTC are not available. Research revealed emotional and physical triggering factors of TTC and emph...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.00917
更新日期:2019-08-22 00:00:00
abstract::Background: Increasing evidence implicates involvement of the innate immune system in the initiation and progression of Parkinson's disease (PD). Monocytes and monocyte-derived cells perform a number of functions, such as phagocytosis, chemotaxis, and cytokine secretion, which may be particularly relevant to PD pathol...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00870
更新日期:2018-10-16 00:00:00
abstract::Systemic BCGitis and autoimmune diseases are possible adverse events of intravesical Bacille Calmette-Guérin-(BCG)-instillations in the treatment of urothelioma cancer. We present the case of an 83-years-old male patient with rapid progressive symptoms of dementia up to mutism as well as tonic seizures. Immune-mediate...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.484282
更新日期:2020-10-26 00:00:00
abstract::While the spread of some neurodegenerative disease-associated proteinopathies, such as tau and α-synuclein, is well studied and clearly implicates transsynaptic pathology transmission, research into the progressive spread of amyloid-β pathology has been less clear. In fact, prior analyses of transregional amyloid-β pa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00653
更新日期:2017-12-18 00:00:00
abstract::Periodontitis is an oral inflammatory disease and may contribute to low-grade systemic inflammation. Based on the contribution of periodontitis to systemic inflammation and the potential role of systemic inflammation in neuroinflammation, many epidemiological studies have investigated a possible association between pe...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00323
更新日期:2019-04-24 00:00:00
abstract::Background: Giant vertebrobasilar aneurysms (GVBAs) have an unfavorable natural history if left untreated and often pose a sizeable challenge to endovascular treatment. The aim of this study was to analyze the angiographic and clinical outcomes of GVBAs treated by various endovascular procedures. Methods: Between Janu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00748
更新日期:2020-08-11 00:00:00
abstract::Traumatic brain injury (TBI) and subarachnoid hemorrhage (SAH) are major contributors to morbidity and mortality. Following the initial insult, patients may deteriorate due to secondary brain damage. The underlying molecular and cellular cascades incorporate components of the innate immune system. There are different ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00351
更新日期:2017-07-20 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
pub_type: 杂志文章
doi:10.3389/fneur.2020.595975
更新日期:2020-10-15 00:00:00
abstract::Growing evidence shows the bidirectional interactions between sleep, circadian rhythm, and epilepsy. Comprehending how these interact with each other may help to advance our understanding of the pathophysiology of epilepsy and develop new treatment strategies to improve seizure control by reducing the medication side ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00327
更新日期:2020-05-08 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::Previous consensus statements on sports concussion have highlighted the importance of Attention Deficit Hyperactivity Disorder (ADHD) and loss of consciousness (LOC) as risk factors related to concussion management. The present study investigated how self-reported history of either ADHD diagnosis or history of previou...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00396
更新日期:2019-04-24 00:00:00
abstract:Background/objectives:Although the current evidence is insufficient to recommend a special diet for people with multiple sclerosis (MS), dietary advice for people with MS is prolific online and in the media. This study aimed to describe dietary changes made in the year following a first clinical diagnosis of central ne...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00161
更新日期:2018-03-20 00:00:00
abstract::Expansion of the neural progenitor pool in the developing cerebral cortex is crucial for controlling brain size, since proliferation defects have been associated with the pathogenesis of microcephaly in humans. Cell cycle regulators play important roles in proliferation of neural progenitors. Here, we show that the cy...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00132
更新日期:2014-07-18 00:00:00
abstract::Background: Studies have investigated the lipid profile in amyotrophic lateral sclerosis (ALS), including the levels of total cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL), and higher low-density lipoprotein (LDL), and the associations with mortality of ALS, but the results were inconsistent. The...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.567753
更新日期:2020-10-15 00:00:00
abstract::Traumatic brain injury is the leading cause of death in children. Children with severe TBI are in need of neurointensive care where the goal is to prevent secondary brain injury by avoiding secondary insults. Monitoring of cerebral blood flow (CBF) and autoregulation in the injured brain is crucial. However, there are...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00274
更新日期:2020-04-16 00:00:00
abstract::Functional connectivity maps using resting-state functional magnetic resonance imaging (rs-fMRI) can closely resemble task fMRI activation patterns, suggesting that resting-state brain activity may predict task-evoked activation or behavioral performance. However, this conclusion was mostly drawn upon a healthy popula...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00339
更新日期:2017-07-19 00:00:00
abstract::Surface electromyography (sEMG) is a widely used technology in rehabilitation research and provides quantifiable information on the myoelectric output of a muscle. In this perspective, we discuss the barriers which have restricted the wide-spread use of sEMG in clinical rehabilitation of individuals with spinal cord i...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.578559
更新日期:2020-12-18 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: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:OBJECTIVE:Dizziness is a common reason patients present to doctors, but effective diagnostic tests and treatments for dizziness are underused. The internet is a way to disseminate medical information and is emerging as an intervention platform. The objective of this study was to describe internet searches for dizziness...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00050
更新日期:2014-04-16 00:00:00
abstract::This study describes two experiments that were conducted in search for a behavioral paradigm to test for tinnitus in guinea pigs. Conditioning paradigms are available to determine the presence of tinnitus in animals and are based on the assumption that tinnitus impairs their ability to detect silent intervals in conti...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00207
更新日期:2014-10-15 00:00:00
abstract::This study reports the case of an acoustic shock injury (ASI), which did not result in a significant hearing loss, but was followed by manifold chronic symptoms both within (tinnitus, otalgia, tingling in the ear, tension in the ear, and red tympanum) and outside the ears (blocked nose, pain in the neck/temporal regio...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2017.00420
更新日期:2017-08-16 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::The vestibular system plays a crucial role in maintaining postural balance. Unilateral vestibular lesions result in a typical syndrome characterized by postural imbalance, altered locomotor patterns and gaze stabilization, as well as cognitive and neurovegetative disorders. One of the main difficulties encountered in ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00470
更新日期:2020-05-29 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
pub_type: 杂志文章
doi:10.3389/fneur.2020.00004
更新日期:2020-01-31 00:00:00
abstract::Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of the nine polyglutamine (polyQ) diseases and is caused by a CAG repeat expansion within the coding sequence of the ATXN3 gene. Few multimodal imaging analyses of the macro- and micro-structural changes have been performed. Methods: In...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01025
更新日期:2019-09-24 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::Quantitative mapping of the magnetic susceptibility and the effective transverse relaxation rate (R2*) are suitable to assess the iron content in distinct brain regions. In this prospective, explorative study the iron accumulation in deep gray matter nuclei (DGM) in myotonic dystrophy type 1 (DM1) and 2 (DM2) and its ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01320
更新日期:2019-12-13 00:00:00
abstract::Hand-Arm Bimanual Intensive Therapy (HABIT) promotes hand function using intensive practice of bimanual functional and play tasks. This intervention has shown to be efficacious to improve upper-extremity (UE) function in children with unilateral spastic cerebral palsy (USCP). In addition to UE function deficits, lower...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00495
更新日期:2017-09-26 00:00:00
abstract::Single time point positron emission tomography (PET) studies of patients with amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD), have demonstrated hypometabolism or hypermetabolism in certain brain regions. To determine whether longitudinal (at baseline and 20.4 months later) PET and magnetic resonan...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00234
更新日期:2019-03-19 00:00:00