Abstract:
:Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced coenzyme Q to cytochrome C and thus, contributes to the formation of electrochemical potential and subsequent ATP generation. Mutations in TTC19 have been found to be associated with a wide range of neurological and psychological manifestations. Herein, we report on a 15-year-old boy born from first-degree cousin parents, who initially presented with psychiatric symptoms. He subsequently developed progressive ataxia, spastic paraparesis with involvement of caudate bodies and lentiform nuclei with cerebellar atrophy. Eventually, the patient developed gastrointestinal involvement. Using whole-exome sequencing (WES), we identified a novel homozygous frameshift mutation in the TTC19 gene in the patient (NM_017775.3, c.581delG: p.Arg194Asnfs*16). Advanced genetic sequencing technologies developed in recent years have not only facilitated identification of novel disease genes, but also allowed revelations about novel phenotypes associated with mutations in the genes already linked with other clinical features. Our findings expanded the clinical features of TTC19 mutation to potentially include gastrointestinal involvement. Further functional studies are needed to elucidate the underlying pathophysiological mechanisms.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Habibzadeh P,Inaloo S,Silawi M,Dastsooz H,Farazi Fard MA,Sadeghipour F,Faghihi Z,Rezaeian M,Yavarian M,Böhm J,Faghihi MAdoi
10.3389/fneur.2019.00944subject
Has Abstractpub_date
2019-09-04 00:00:00pages
944issn
1664-2295journal_volume
10pub_type
abstract::Major advances in neonatal care have led to significant improvements in survival rates for preterm infants, but this occurs at a cost, with a strong causal link between preterm birth and neurological deficits, including cerebral palsy (CP). Indeed, in high-income countries, up to 50% of children with CP were born pret...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2014.00200
更新日期:2014-10-09 00:00:00
abstract::Studies suggest that microRNAs that regulate expression of matrix metalloproteinase (MMP)-9 may be involved in hemorrhagic transformation (HT) after cardioembolic stroke, so we examined whether such microRNAs could predict HT in acute cardioembolic stroke patients. Blood samples were prospectively collected from patie...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00945
更新日期:2019-09-06 00:00:00
abstract::There is increasing evidence for hippocampal involvement in Amyotrophic Lateral Sclerosis (ALS). Recent neuroimaging studies have been focused on disease-related hippocampal volume alterations while changes in hippocampal shape have been investigated less frequently. Here, we aimed to characterize the patterns of hipp...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00565
更新日期:2018-07-20 00:00:00
abstract::Successful implementation of a randomized clinical trial (RCT) for neuro-vascular emergencies such as cerebral infarction, intracerebral hemorrhage, or subarachnoid hemorrhage is extraordinarily challenging. Besides establishing an accurate, hyper-expedited diagnosis among many mimics in a person with acute neurologic...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2011.00065
更新日期:2011-10-17 00:00:00
abstract::This work aims at reviewing the present state of the art when it comes to understanding the pathophysiology of narcolepsy and the Kleine-Levin syndrome (KLS) from a neuroimaging point of view. This work also aims at discussing future perspectives of functional neuroimaging in these sleep disorders. We focus on functio...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2014.00105
更新日期:2014-06-25 00:00:00
abstract::The recurrence rate of chronic subdural hematoma (CSDH) has been reported to range from 2.3 to 33%. As bridging veins are composed of abundant collagen bundles and bone matrix, we aimed to investigate the possible associations between skull Hounsfield unit (HU) values and the recurrence of CSDH. We retrospectively enr...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.538257
更新日期:2020-09-24 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::Children and adolescent athletes are at a higher risk for concussion than adults, and also experience longer recovery times and increased associated symptoms. It has also recently been demonstrated that multiple, seemingly mild concussions may result in exacerbated and prolonged neurological deficits. Objective assess...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2015.00243
更新日期:2015-11-20 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::Motion perception following rotational vestibular stimulation is described either as a self-motion or as an environmental-motion. The purpose of the present study was to establish frequency of occurrence of both sensations in healthy humans; what other sensations they experience and how factors insinuation and visual ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00162
更新日期:2019-02-27 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::Myasthenia gravis (MG) is the most common autoimmune disorder affecting the neuromuscular junction, characterized by skeletal muscle weakness and fatigability. It is caused by autoantibodies targeting proteins of the neuromuscular junction; ~85% of MG patients have autoantibodies against the muscle acetylcholine recep...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.596981
更新日期:2020-11-30 00:00:00
abstract::Introduction: Novel therapies are needed for the treatment of motion sickness given the inadequate relief and bothersome and dangerous adverse effects of currently approved therapies. Neurokinin-1 (NK1) receptor antagonists have the potential to be effective in improving the symptoms of motion sickness, given the invo...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.563373
更新日期:2020-09-29 00:00:00
abstract::Infections in the post-acute phase of cerebral ischaemia impede optimal recovery by exacerbating morbidity and mortality. Our review aims to reconcile the increased infection susceptibility of patients post-stroke by consolidating our understanding of compartmentalised alterations to systemic immunity. Mounting eviden...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.00718
更新日期:2019-07-02 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:INTRODUCTION:Alzheimer's disease (AD) is a long term progressive neurodegenerative disease and might affect the retinal nerve fiber layer thickness (RNFLT) of the eye. There is increasing evidence that visual evoked potentials (VEP), which are an objective way to indicate visual field loss, might be affected by the dis...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00203
更新日期:2013-12-16 00:00:00
abstract::Melodic intonation therapy (MIT) is a treatment program for the rehabilitation of aphasic patients with speech production disorders. We report a case of severe chronic non-fluent aphasia unresponsive to several years of conventional therapy that showed a marked improvement following intensive 9-day training on the Jap...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2016.00148
更新日期:2016-09-19 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:AIMS:To construct and validate a short scale for the assessment of the severity of visual height intolerance (vHI) and acrophobia. METHODS:The questionnaire was developed from two earlier representative epidemiological studies (n = 5,529). Items were applied in a telephone survey of a representative population-based s...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00211
更新日期:2017-06-01 00:00:00
abstract::Background: The sequence effect (SE), referring to step-to-step reduction in amplitude, is considered to lead to freezing of gait (FOG) in Parkinson's disease (PD). Visual cues may alleviate SE and help reduce freezing episodes. FOG patients show significant SE prior to turning or toward a doorway, but the SE toward a...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00838
更新日期:2020-08-12 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: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:OBJECTIVE:To assess the progress of the development of the vestibular implant (VI) and its feasibility short-term. DATA SOURCES:A search was performed in Pubmed, Medline, and Embase. Key words used were "vestibular prosth*" and "VI." The only search limit was language: English or Dutch. Additional sources were medical...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2011.00047
更新日期:2011-08-11 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::Attention impairment may provide a cohesive neurobiological explanation for clusters of clinical symptoms that occur after a concussion; therefore, objective quantification of attention is needed. Visually tracking a moving target is an attention-dependent sensorimotor function, and eye movement can be recorded easily...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00611
更新日期:2018-07-26 00:00:00
abstract::Purpose: To assess the efficacy and safety of rituximab treatment as second-line immunotherapy in pediatric cases of anti-NMDA receptor (NMDAR) encephalitis. Methods: We retrospectively recruited 8 patients with anti-NMDAR encephalitis who were treated with rituximab as second-line immunotherapy. We evaluated the clin...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.606923
更新日期:2020-12-14 00:00:00
abstract::Background: Overweight contributes to type 2 diabetes mellitus (T2DM) development. Although the obesity paradox has been suggested in many vascular diseases, little information is available about stroke patients with T2DM. We investigated whether body mass index (BMI) has a differential impact on the incidence of majo...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00563
更新日期:2019-06-05 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::Skeletal muscle is an essential regulator of energy homeostasis and a potent coordinator of exercise-induced adaptations in other organs including the liver, fat or the brain. Skeletal muscle-initiated crosstalk with other tissues is accomplished though the secretion of myokines, protein hormones which can exert autoc...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00698
更新日期:2018-08-24 00:00:00
abstract::Excessive daytime sleepiness (EDS) is a prevalent sleep-related complaint across the general population and has been reported to be associated with headache. Tension-type headache (TTH) is the most commonly encountered headache and accounts for a significant amount of disease burden. However, the association between E...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01282
更新日期:2019-12-03 00:00:00