Abstract:
:GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-intrafamilial phenotypic variability has been reported. Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation (FAO) with also a variable age of onset and clinical presentation including cardiomyopathy, hypoketotic hypoglycemia, and liver disease. Sometimes, VLCAD manifests later with a prevalent muscle involvement characterized by exercise intolerance and recurrent rhabdomyolysis. We report a 40-year-old man with mild mental retardation and sporadic choreo-athetoid movements, who complained of recurrent episodes of rhabdomyolysis triggered by exercise or fasting since his twenties. His 15-year-old son had a psychomotor developmental delay with episodes of drowsiness mainly at fasting and exercise-induced choreo-athetoid movements but no history of pigmenturia. Clinical and laboratory findings in the son suggested a diagnosis of GLUT1-DS confirmed by SCL2A1 genetic analysis that revealed a heterozygous mutation c.997C>T (p.R333W) that was also found in the proband. However, the presence in the latter of recurrent exercise-induced rhabdomyolysis, never reported in GLUT1-DS, implied a second metabolic disorder. Increased plasma C14:1-carnitine levels and the identification of two known heterozygous mutations c. 553G>A (p.G185S) and c.1153C>T (p.R385W) in ACADVL confirmed the additional diagnosis of VLCAD deficiency in the proband. Nowadays, there is an increasing evidence of "double trouble" cases of genetic origin. Consequently, when atypical features accompany a known phenotype, associated comorbidities should be considered.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Musumeci O,Ferlazzo E,Rodolico C,Gambardella A,Gagliardi M,Aguglia U,Toscano Adoi
10.3389/fneur.2020.00514subject
Has Abstractpub_date
2020-06-23 00:00:00pages
514issn
1664-2295journal_volume
11pub_type
杂志文章abstract::Humans evolved a symbiotic relationship with their gut microbiome, a complex microbial community composed of bacteria, archaea, protists, and viruses, including bacteriophages. The enteric nervous system (ENS) is a gateway for the bidirectional communication between the brain and the gut, mostly through the vagus nerv...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.00574
更新日期:2019-06-04 00:00:00
abstract::The electrophysiological EEG features such as high frequency oscillations, spikes and functional connectivity are often used for delineation of epileptogenic tissue and study of the normal function of the brain. The epileptogenic activity is also known to be suppressed by cognitive processing. However, differences bet...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.578571
更新日期:2020-10-27 00:00:00
abstract:Background and Objectives:Benign paroxysmal positional vertigo (BPPV) recurs frequently. This study aims to determine that each patient with BPPV has a predilection for a specific canal and the type of recurred BPPV can be predicted from that observed during the previous attack. Methods:The involved side (right, left,...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00690
更新日期:2017-12-15 00:00:00
abstract::Background: Spinal and Bulbar Muscular Atrophy (SBMA) is caused by the extension of the polyglutamine tract within the androgen receptor (AR) gene, and results in a multisystem presentation, including the degeneration of lower motor neurons. The androgen receptor (AR) is known to modulate the expression of endogenous ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00968
更新日期:2019-09-04 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 evaluate ocular and cervical vestibular evoked myogenic potentials (oVEMPs and cVEMPs) in patients with solely intracochlear localization of an intralabyrinthine schwannoma (ILS). Study Design: Retrospective analysis of a series of cases. Setting: Monocentric study at a tertiary referral center. Patients...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.549817
更新日期:2020-10-27 00:00:00
abstract::Introduction: The purpose of this study was to verify whether the prevalence of intracranial aneurysm (IA) in patients with acoustic neuroma is greater than that in age- and sex-matched controls and to evaluate the independent risk factors related to the occurrence of IA. Methods: We retrospectively analyzed 231 patie...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.591526
更新日期:2020-11-02 00:00:00
abstract::Objective: To investigate the dynamic amplitude of low-frequency fluctuations (dALFFs) in patients with Parkinson's disease (PD) and healthy controls (HCs) and further explore whether dALFF can be used to test the feasibility of differentiating PD from HCs. Methods: Twenty-eight patients with PD and 28 demographically...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01052
更新日期:2019-10-01 00:00:00
abstract::Tau accumulation is a prominent feature in a variety of neurodegenerative disorders and remarkable effort has been expended working out the biochemistry and cell biology of this cytoplasmic protein. Tau's wayward properties may derive from germline mutations in the case of frontotemporal lobar degeneration (FTLD-MAPT)...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.590199
更新日期:2020-11-12 00:00:00
abstract::Neurocysticercosis (NC) is the most common parasitic infection of the central nervous system (CNS). Several studies have reported an association between NC and mesial temporal lobe epilepsy (MTLE). We intended to evaluate the frequency of hippocampal atrophy (HA), clinical evolution and imaging findings in patients wi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00449
更新日期:2019-04-30 00:00:00
abstract::Background: We hypothesized that right and left temporal lobe epilepsy (RTLE and LTLE, respectively) have distinctive spatial patterns of white matter (WM) changes that can be differentiated and interpreted with the use of multiple diffusion parameters. We compared the global microstructure of fiber bundles with regar...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00986
更新日期:2019-10-01 00:00:00
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
pub_type:
doi:10.3389/fneur.2019.01049
更新日期:2019-10-04 00:00:00
abstract:BACKGROUND:Amnestic mild cognitive impairment (aMCI) is considered to be the transitional stage between healthy aging and Alzheimer's disease (AD). Moreover, aMCI individuals with additional impairment in one or more non-memory cognitive domains are at higher risk of conversion to AD. Hence accurate identification of t...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00076
更新日期:2014-05-21 00:00:00
abstract::Epilepsy may reflect a focal abnormality of cerebral tissue, but the generation of seizures typically involves propagation of abnormal activity through cerebral networks. We examined epileptiform discharges (spikes) with dense array electroencephalography (dEEG) in five patients to search for the possible engagement o...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00055
更新日期:2013-05-15 00:00:00
abstract::Background: Gait disorders (GD) are frequent and disabling symptoms in patients with Parkinson's disease, mostly because they significantly limit mobility and often lead to fear of falls or actual falls. Nowadays, rehabilitation is considered to be the most effective nonpharmacological approach to reduce risk of falls...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01024
更新日期:2019-09-24 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: There is very limited information on the relationship between non-alcoholic fatty liver disease (NAFLD) and the severity or functional outcomes of ischemic stroke or transient ischemic stroke (TIA). We investigated the correlation between NAFLD and stroke outcomes. Methods: NAFLD was assessed in 321 patien...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00375
更新日期:2019-04-12 00:00:00
abstract::Inflammation after traumatic spinal cord injury (SCI) is non-resolving and thus still present in chronic injury stages. It plays a key role in the pathophysiology of SCI and has been associated with further neurodegeneration and development of neuropathic pain. Neural precursor cells (NPCs) have been shown to reduce t...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00428
更新日期:2018-06-08 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::The corticospinal system is a major motor pathway in the control of skilled voluntary movements such as reaching and grasping. It has developed considerably phylogenetically to reach a peak in humans. Because rodents possess advanced forelimb movements that can be used for reaching and grasping food, it is commonly co...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00103
更新日期:2014-06-20 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
pub_type: 杂志文章
doi:10.3389/fneur.2018.01157
更新日期:2019-01-14 00:00:00
abstract::Background: Automated ASPECTS has the potential of reducing interobserver variability in the determination of early ischemic changes. We aimed to assess the performance of an automated ASPECTS vs. ASPECTS interpreted for sent CT images on WhatsApp and to correlate these results with the outcome. Materials and Methods:...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00333
更新日期:2020-05-19 00:00:00
abstract::The Boston Carpal Tunnel Questionnaire (BCTQ) is a scale that has been developed specifically for carpal tunnel syndrome (CTS). It consists of the Functional Status Scale (FSS) and the Symptom Severity Scale (SSS). It is the most widely used patient reported outcome measure in CTS and has been validated in many langua...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01154
更新日期:2019-11-07 00:00:00
abstract::Objective: The peak-to-peak amplitude of the p13-n23 wave in cervical vestibular evoked myogenic potential can increase after furosemide administration in patients with Meniere's disease [furosemide-loading VEMP (FVEMP) testing]. The examination is used to test for the presence of endolymphatic hydrops; we investigate...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00636
更新日期:2018-08-03 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::The protein S-100B is a biomarker increasingly used within neurosurgery and neurointensive care. As a relatively sensitive, yet unspecific, indicator of CNS pathology, potential sources of error must be clearly understood when interpreting serum S-100B levels. This case report studied the course of a 46-year-old gentl...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00170
更新日期:2012-12-05 00:00:00
abstract::The relationship between body mass index (BMI) and stroke type has remained controversial despite studies demonstrating that BMI is related to stroke risk, especially in specific groups. We assessed the age- and sex-associated impacts of BMI on stroke type in a low-income, poorly educated population in China. The asso...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00456
更新日期:2019-05-01 00:00:00
abstract::Purpose: Stroke-associated pneumonia (SAP), a common complication in acute ischemic stroke (AIS) patients, is associated with poor prognosis after AIS. Inflammation plays an important role in the development of SAP. In this study, we aimed to explore the association between the monocyte-to-lymphocyte ratio (MLR) and S...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.575809
更新日期:2020-10-06 00:00:00
abstract::Objectives: To identify and compare the cerebrospinal fluid (CSF) parameters that predict the presence of neonatal bacterial meningitis using optimal cutoff values, and to derive and compare predictive profiles based on a combination of individual parameters for the same purpose. Study Design: The retrospective compon...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00012
更新日期:2019-01-23 00:00:00
abstract::Gross motor impairments are common after stroke, but efficient and motivating therapies for these impairments are scarce. We present an innovative musical sonification therapy, especially designed to retrain patients' gross motor functions. Sonification should motivate patients and provide additional sensory input inf...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00106
更新日期:2016-06-30 00:00:00