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), a mother and her son, belonging to a Mexican family, and a third sporadic French patient. Results: Patient 1 and 2 presented with an early onset myopathy associated with ptosis, velopharyngeal weakness, and cardiac involvement. Patient 3 presented rhabdomyolysis unmasking a mitochondrial disease characterized by a sensorineural hearing loss, ptosis, and lipomas. Muscle biopsies performed in all patients showed variable mitochondrial alterations. Patient 3 had multiple mtDNA deletion in his muscle. Genetic studies revealed a novel heterozygous frameshift mutation in DNA2 gene (c.2346delT p.Phe782Leufs*3) in P1 and P2, and a novel heterozygous missense mutation in DNA2 gene (c.578T>C p.Leu193Ser) in the P3. Conclusions: To date only few AD cases presenting either missense or truncating DNA2 variants have been reported. None of them presented with a cardiac involvement or rhabdomyolysis. Here we enlarge the genetic and phenotypic spectrum of DNA2-related mitochondrial disorders.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
González-Del Angel A,Bisciglia M,Vargas-Cañas S,Fernandez-Valverde F,Kazakova E,Escobar RE,Romero NB,Jardel C,Rucheton B,Stojkovic T,Malfatti Edoi
10.3389/fneur.2019.01049subject
Has Abstractpub_date
2019-10-04 00:00:00pages
1049issn
1664-2295journal_volume
10pub_type
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::Background: Sphingosine 1-phosphate (S1P) is a lipid metabolite that mediates various physiological processes, including vascular endothelial cell function, inflammation, coagulation/thrombosis, and angiogenesis. As a result, S1P may contribute to the pathogenesis of stroke. Objective: This study aimed to evaluate the...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00985
更新日期:2020-09-08 00:00:00
abstract:INTRODUCTION:Core cerebrospinal fluid (CSF) biomarkers - Aβ42, Tau, and phosphorylated Tau (pTau) - have been recently incorporated in the revised criteria for Alzheimer's disease (AD). However, their widespread clinical application lacks standardization. Pre-analytical sample handling and storage play an important rol...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00153
更新日期:2015-07-08 00:00:00
abstract::Background: Spontaneous use of the more-affected arm is a meaningful indicator of stroke recovery. The Bilateral Arm Reaching Test (BART) was previously developed to quantify arm use by measuring arm choice to targets projected over a horizontal hemi-workspace. In order to improve clinical validity, we constrained the...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00883
更新日期:2018-10-22 00:00:00
abstract::Psychophysiological investigations of traumatic brain injury (TBI) are being conducted for several reasons, including the objective of learning more about the underlying physiological mechanisms of the pathological processes that can be initiated by a head injury. Additional goals include the development of objective ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00091
更新日期:2013-07-22 00:00:00
abstract::Stroke is a leading cause of death and disability, and recombinant tissue plasminogen activator (rtPA) can significantly reduce the long-term impact of acute ischemic stroke (AIS) if given within 3 h of symptom onset. South Carolina is located in the "stroke belt" and has a high rate of stroke and stroke mortality. Ma...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00044
更新日期:2012-03-21 00:00:00
abstract:CONTEXT:Mandibular movements (MM) are considered as reliable reporters of respiratory effort (RE) during sleep and sleep disordered breathing (SDB), but MM accuracy has never been validated against the gold standard diaphragmatic electromyography (EMG-d). OBJECTIVES:To assess the degree of agreement between MM and EMG...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00353
更新日期:2017-07-21 00:00:00
abstract::Importance: Coronavirus disease 2019 (COVID-19) is a newly emerging infectious disease that has caused a global pandemic. The presenting symptoms are mainly respiratory symptom, yet studies have reported nervous system involvement in the disease. A systematic review and meta-analysis of these studies are required to u...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00565
更新日期:2020-05-29 00:00:00
abstract::Shame and embarrassment related to Parkinson's disease (PD) are rarely addressed in clinical practice nor studied in neuroscience research, partly because no specific tool exists to detect them in PD. Objective: To develop a self-applied assessment tool of shame and embarrassment specifically related to PD or its trea...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00779
更新日期:2020-07-31 00:00:00
abstract::Multiple sclerosis (MS) is a neurodegenerative disease characterized by lesions in the central nervous system (CNS). Inflammation and demyelination are the leading causes of neuronal death and brain lesions formation. The immune reactivity is believed to be essential in the neuronal damage in MS. Cytokines play import...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00781
更新日期:2019-07-18 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: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::Introduction: Parkinson's disease (PD) is a neurodegenerative disorder affecting a substantial proportion of the elderly Cypriot population. The objective of this study was to evaluate PD risk variants that have been identified previously in Genome Wide Association Studies (GWAS) and to find environmental factors that...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01047
更新日期:2019-10-17 00:00:00
abstract::Introduction: Persons with MS (PwMS) have markedly reduced push-off and toe-clearance during gait compared to healthy subjects (HS). These deficits may result from alterations in neuromotor control at the ankle. To optimize rehabilitation interventions for PwMS, a crucial step is to evaluate if and how altered neuromo...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00668
更新日期:2020-07-24 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::A carotid-jugular fistula is a direct communication between the carotid artery and the jugular vein. Both congenital and spontaneous internal carotid-jugular fistulas are extremely rare. We describe the first case of successful endovascular treatment for a congenital internal carotid-jugular fistula. We report a 64-ye...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.01118
更新日期:2018-12-18 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::Traumatic brain injury (TBI) is a leading cause of death and disability for children and adolescents in the U.S. and other developed and developing countries. Injury to the immature brain varies greatly from that of the mature, adult brain due to numerous developmental, pre-injury, and injury-related factors that work...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.01296
更新日期:2019-12-13 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::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::[This corrects the article DOI: 10.3389/fneur.2020.563609.]. ...
journal_title:Frontiers in neurology
pub_type: 已发布勘误
doi:10.3389/fneur.2020.617878
更新日期:2020-11-12 00:00:00
abstract::Subcortical circuits mediating sleep-wake functions have been well characterized in animal models, and corroborated by more recent human studies. Disruptions in these circuits have been identified in hypersomnia disorders (HDs) such as narcolepsy and Kleine-Levin Syndrome, as well as in neurodegenerative disorders exp...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2014.00165
更新日期:2014-09-11 00:00:00
abstract::Microglia are activated during pathological events in the brain and are capable of releasing various types of inflammatory cytokines. Here, we demonstrate that the addition of 5% microglia activated by 1 μg/ml lipopolysaccharides (LPS) to hippocampal cultures upregulates Na(+) current densities (INavD) of bipolar as w...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00044
更新日期:2016-03-30 00:00:00
abstract::We describe and evaluate a pre-processing method based on a periodic spiral sampling of diffusion-gradient directions for high angular resolution diffusion magnetic resonance imaging. Our pre-processing method incorporates prior knowledge about the acquired diffusion-weighted signal, facilitating noise reduction. Peri...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00290
更新日期:2015-01-12 00:00:00
abstract::Manual dexterity measures can be useful for early detection of age-related functional decline and for prediction of cognitive decline. However, what aspects of sensorimotor function to assess remains unclear. Manual dexterity markers should be able to separate impairments related to cognitive decline from those relate...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00910
更新日期:2018-10-29 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: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::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::Neurosyphilis, which is caused by Treponema pallidum, is a rare sexually transmitted disease involving the central nervous system (CNS). Among all the sub-categories, spinal syphilitic gumma is extremely rare. In previous literature, limited cases of spinal syphilitic gumma have been reported, most of which underwent ...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.01352
更新日期:2020-01-15 00:00:00
abstract::The dopamine (DA) precursor l-DOPA has been the most effective treatment for Parkinson's disease (PD) for over 40 years. However, the response to this treatment changes with disease progression, and most patients develop dyskinesias (abnormal involuntary movements) and motor fluctuations within a few years of l-DOPA t...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2014.00242
更新日期:2014-12-15 00:00:00