Abstract:
:Mutations in both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide cause Gaucher disease. However, multiple independent studies have also reported an association between GBA mutations and Parkinsonism with an increased frequency of heterozygous GBA mutations in various cohorts of patients with parkinsonism and other Lewy body disorders. Furthermore, GBA mutation carriers exhibit diverse parkinsonian phenotypes and present a diffuse pattern of Lewy body distribution in the cerebral cortex. This review provides an overview of the genetic basis for this association in various diseases with dysfunction of the central nervous system in which affected individuals developed Parkinsonian symptoms. The emerging clinical, pathological, and genetic studies in neuronal synucleinopathies suggest a common underlying mechanism in the etiology of these neurodegenerative disorders.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Almeida Mdo Rdoi
10.3389/fneur.2012.00065subject
Has Abstractpub_date
2012-04-27 00:00:00pages
65issn
1664-2295journal_volume
3pub_type
杂志文章abstract::Tumor necrosis factor-alpha (TNF-α) is a proinflammatory cytokine that plays a prominent role in the nervous system, mediating a range of physiologic and pathologic functions. In the auditory system, elevated levels of TNF-α have been implicated in several types of sensorineural hearing loss, including sensorineural h...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01353
更新日期:2020-02-10 00:00:00
abstract::Gaze stability exercises are a critical component of vestibular rehabilitation for individuals with vestibular hypofunction and many studies reveal the rehabilitation improves functional performance. However, few studies have examined the vestibular physiologic mechanisms (semicircular canal; otolith) responsible for ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00079
更新日期:2020-02-20 00:00:00
abstract::α-synuclein is involved in the pathogenesis of multiple system atrophy (MSA) and can be regulated by peripheral immune activation (PIA). We aimed to clarify the correlations between PIA and the prevalence of MSA and to analyze the role of PIA in the progression of the disease. A total of 321 patients with probable MSA...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00658
更新日期:2020-07-07 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
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00007
更新日期:2015-02-02 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::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:BACKGROUND:Sudden unexpected death in epilepsy (SUDEP) is common among young people with epilepsy. Individuals who are at high risk of SUDEP exhibit regional brain structural and functional connectivity (FC) alterations compared with low-risk patients. However, less is known about network-based FC differences among cri...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00544
更新日期:2017-10-16 00:00:00
abstract::The measurement of optic nerve sheath diameter (ONSD) has been reported as a non-invasive marker for intracranial pressure (ICP). Nevertheless, it is uncertain whether possible ONSD differences occur with age and sex in healthy and brain-injured populations. The aim of this study was to investigate the effects of sex ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00764
更新日期:2020-08-07 00:00:00
abstract::Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a severe multisystem infantile form, an hemolytic variant and a late-onset ...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00077
更新日期:2019-02-07 00:00:00
abstract::Background: Tract-based spatial statistics (TBSS) is suitable for the assessment of voxel-wise changes in fiber integrity in WM tracts in the entire brain. Longitudinal TBSS analyses of early multiple sclerosis (MS) using 3 Tesla magnetic resonance imaging (MRI) are not common. Objective: To characterize microstructur...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01165
更新日期:2019-11-05 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::Magnetic resonance elastography (MRE) is a non-invasive imaging technique, using the propagation of mechanical waves as a probe to palpate biological tissues. It consists in three main steps: production of shear waves within the tissue; encoding subsequent tissue displacement in magnetic resonance images; and extracti...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.01010
更新日期:2018-11-27 00:00:00
abstract::Background: Over the last few years there has been growing interest in use of visual measures as useful tools for multiple sclerosis (MS) prognosis and tracking. Optic neuritis (ON) being a prevalent and often-presenting symptom of the disease, as well as the high occurrence rate of posterior visual system damage inde...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00455
更新日期:2019-05-03 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
abstract:Objective:Vestibular signals are involved in higher cortical functions like spatial orientation and its disorders. Vestibular dysfunction contributes, for example, to spatial neglect which can be transiently improved by caloric stimulation. The exact roles and mechanisms of the vestibular and visual systems for the rec...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.00112
更新日期:2018-03-02 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
pub_type: 杂志文章
doi:10.3389/fneur.2018.00186
更新日期:2018-03-27 00:00:00
abstract::Cognitive dysfunction is a significant non-motor feature of Parkinson's disease, with the risk of dementia increasing with prolonged disease duration. Multiple cognitive domains are affected, and the pathophysiology cannot be explained by dopaminergic loss alone. Sophisticated neuroimaging techniques can detect the na...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00047
更新日期:2020-01-31 00:00:00
abstract::Thyroid hormones are of fundamental importance for brain development and essential factors to warrant brain functions throughout life. Their actions are mediated by binding to specific intracellular and membranous receptors regulating genomic and non-genomic mechanisms in neurons and populations of glial cells, respec...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.01103
更新日期:2019-10-18 00:00:00
abstract::Sleep complaints increase profoundly with age; prevalence estimates of insomnia in the elderly reach up to 37%. The three major types of nocturnal complaints are difficulties initiating (DIS) and maintaining (DMS) sleep and early morning awakening (EMA), of which the latter appears most characteristic for aging. The n...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00105
更新日期:2012-06-28 00:00:00
abstract::Carpal tunnel syndrome (CTS) is a disorder of the wrist due to narrowing of the carpal tunnel. It can be caused by trauma or tumors in the tunnel resulting in compression of the median nerve. This disorder is often diagnosed with early symptoms such as tingling, numbness, and weakness that subsequently lead to hand mu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00888
更新日期:2019-08-26 00:00:00
abstract::The aim of the present study was to evaluate the correlation between the end of an Oxford sleep resistance (OSLER) test session and a neurophysiological marker of sleep onset in Parkinson's disease (PD) patients. Single center study was conducted in PD patients with excessive daytime sleepiness [Epworth sleepiness sca...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00200
更新日期:2015-09-24 00:00:00
abstract::Background: Palliative care in Parkinson's Disease (PD) patients considerably differs from palliative care in oncology patients. Integrated care models are a concept to support patients and improve management of PD symptoms. However, it is not known if the access to PD patients at the end of life can be achieved throu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00627
更新日期:2018-07-30 00:00:00
abstract::Localization of the epileptogenic zone (EZ) is crucial in the surgical treatment of focal epilepsy. Recently, EEG studies have revealed that the EZ exhibits abnormal connectivity, which has led investigators to now consider connectivity as a biomarker to localize the EZ. Further, abnormal connectivity of the EZ may pr...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.569699
更新日期:2020-11-25 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::Significant advances have been made in the understanding of the numerous mechanisms involved in Parkinson's disease (PD) pathogenesis. The identification of PD pathogenic mutations and the use of different animal models have contributed to better elucidate the processes underlying the disease. Here, we report a brief ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00103
更新日期:2018-03-01 00:00:00
abstract:OBJECT:Aneurysmal subarachnoid hemorrhage (aSAH) is a common cause of death or long-term disability. Despite advances in neurocritical care, there is still only a very limited ability to monitor the development of secondary brain injury or to predict neurological outcome after aSAH. Soluble urokinase-type plasminogen a...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00144
更新日期:2017-04-18 00:00:00
abstract::Background: Diagnosing stroke as a cause of acute vertigo, dizziness, or double vision remains a challenge, because symptom characteristics can be variable. The purpose of this study was to prospectively investigate lesion-symptom relationships in patients with acute vestibular or ocular motor stroke. Methods: Three h...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00822
更新日期:2020-08-06 00:00:00
abstract::Objective: Health care personnel in Europe is increasingly involved in care of displaced persons from non-European countries; we investigated the spectrum of neurological disorders and medical management in refugees presenting to the emergency room (ER) of a German university hospital. Methods: We retrospectively stud...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01088
更新日期:2018-12-11 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
pub_type: 杂志文章
doi:10.3389/fneur.2017.00532
更新日期:2017-10-10 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