Abstract:
:Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for targeted enrichment and sequencing of all protein coding exons and exon-intron boundaries of the ATM gene in 373 dystonia patients and six positive controls with known ATM variants. Additionally, a rare-variant association study was performed. Results: One patient (0.3%) was compound heterozygous and 21 others were carriers of variants of unknown significance (VUS) in the ATM gene. Although mutations in sporadic dystonia patients are not common, exclusion of pathogenic variants is crucial to recognize a potential tumor predisposition syndrome. SmMIPs produced similar results as routinely used NGS-based approaches. Conclusion: Our results underline the importance of implementing ATM in the routine genetic testing of dystonia patients and confirm the reliability of smMIPs and their usability for germline screenings in rare neurodegenerative conditions.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Pogoda M,Hilke FJ,Lohmann E,Sturm M,Lenz F,Matthes J,Muyas F,Ossowski S,Hoischen A,Faust U,Sepahi I,Casadei N,Poths S,Riess O,Schroeder C,Grundmann Kdoi
10.3389/fneur.2019.01332subject
Has Abstractpub_date
2019-12-18 00:00:00pages
1332issn
1664-2295journal_volume
10pub_type
杂志文章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::Pathological high-frequency oscillations are a novel marker used to improve the delineation of epileptogenic tissue and, hence, the outcome of epilepsy surgery. Their practical clinical utilization is curtailed by the inability to discriminate them from physiological oscillations due to frequency overlap. Although it ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00687
更新日期:2017-12-21 00:00:00
abstract::Patient registries offer a powerful and practical means of real-world data collection system for rare diseases. Many guidelines have been released to standardize patient registries, although most of them do not address issues specific to rare disease patient registries. In November 2018, the European Medicines Agency ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00365
更新日期:2020-05-15 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::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::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::The cingulate island sign (CIS) on fludeoxyglucose (FDG)-positron emission tomography (PET) is a supporting biomarker of dementia with Lewy bodies (DLB). Its diagnostic accuracy has only been investigated in FDG-PET, however. The present prospective study compared the CIS on I-iodoamphetamine-single photon emission co...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.568438
更新日期:2020-11-19 00:00:00
abstract::Numerous studies suggest that the increased activity of p38MAPK plays an important role in the abnormal immune and inflammatory response observed in the course of neurodegenerative diseases such as Alzheimer's disease. On the other hand, high levels of p38MAPK are present in the brain during normal aging, suggesting t...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00675
更新日期:2019-06-25 00:00:00
abstract::Background: Increasing evidence indicates that early radiation-induced subtle cerebral changes may be the precursors to permanent brain dysfunction at the late-delayed (LDS) post-radiotherapy (RT) stage. In this study, we aim to track the RT-related longitudinal brain activity in nasopharyngeal carcinoma (NPC) patient...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00752
更新日期:2019-07-16 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::The mechanisms involved in traumatic brain injury have yet to be fully characterized. One mechanism that, especially in high-energy trauma, could be of importance is cavitation. Cavitation can be described as a process of vaporization, bubble generation, and bubble implosion as a result of a decrease and subsequent in...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00010
更新日期:2016-02-01 00:00:00
abstract::Objective: To report a rare case of brainstem encephalitis with low-titer acetylcholine receptor antibodies mimicking myasthenia gravis. Methods: The patient was investigated with repeated brain MRI, CSF examination, repetitive nerve stimulation, thoracic CT, and serologic screening. Our patient passed away and finall...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00829
更新日期:2019-08-02 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:BACKGROUND AND PURPOSE:The aim of this study was to systematically review the efficacy and tolerability of gabapentin in the treatment of sleep disturbance in patients with medical illness. METHODS:PubMed was searched for randomized, double-blinded, placebo-controlled trials that reported sleep changes during gabapent...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00316
更新日期:2017-07-14 00:00:00
abstract::Lifestyle factors such as intellectual stimulation, cognitive and social engagement, nutrition, and various types of exercise appear to reduce the risk for common age-associated disorders such as Alzheimer's disease (AD) and vascular dementia. In fact, many studies have suggested that promoting physical activity can h...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2011.00028
更新日期:2011-05-06 00:00:00
abstract::Epilepsy is a neurological disorder in which, in many cases, there is poor pharmacological control of seizures. Nevertheless, it may respond beneficially to alternative treatments such as dietary therapy, like the ketogenic diet or caloric restriction. One of the mechanisms of these diets is to produce a hyperpolariza...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.584298
更新日期:2020-11-05 00:00:00
abstract::Study Objectives: To clarify the effects of sleep duration on stroke and stroke subtypes, we adopted a Mendelian randomization (MR) approach to evaluate their causal relationship. Methods: A genome-wide association study including 446,118 participants from UK biobank was used to identify instruments for short sleep, l...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00976
更新日期:2020-10-07 00:00:00
abstract::Study Objectives: Coronary artery disease is considered to be the major cause of death amongst patients with ischemic stroke. The coronary artery calcium (CAC) score is related not only to sleep-disordered breathing, but also with future risk of cardiovascular mortality. We investigated the association between the sev...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00819
更新日期:2019-07-31 00:00:00
abstract::Objective: The aims of this study were to compare the characteristics of three motor subtype classifications in patients with de novo Parkinson's disease (PD) and to find the most suitable motor subtype classification for identifying non-motor symptoms (NMSs). Methods: According to previous studies, a total of 256 pat...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.601225
更新日期:2020-12-23 00:00:00
abstract::Therapeutic hypothermia (HT) is a currently accepted treatment for neonatal asphyxia and is a promising strategy in adult stroke therapy. We previously reported that acute administration of docosahexaenoic acid (DHA) triglyceride emulsion (tri-DHA) protects against hypoxic-ischemic (HI) injury in neonatal mice. We que...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.618419
更新日期:2021-01-15 00:00:00
abstract:OBJECTIVE:Our aim was to identify the role of the investigators' knowledge of the patient's history of vestibular symptoms (PVH) in the clinical evaluation of the bedside head-impulse test (bHIT). We hypothesized that this knowledge will reduce uncertainty and improve bHIT accuracy when compared to quantitative analysi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00051
更新日期:2017-02-20 00:00:00
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-cha...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00514
更新日期:2020-06-23 00:00:00
abstract::Robust and reliable stroke lesion segmentation is a crucial step toward employing lesion volume as an independent endpoint for randomized trials. The aim of this work was to develop and evaluate a novel method to segment sub-acute ischemic stroke lesions from fluid-attenuated inversion recovery (FLAIR) magnetic resona...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00541
更新日期:2019-05-24 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
abstract:OBJECTIVE:(1) To determine the brain connectivity pattern associated with clinical rigidity scores in Parkinson's disease (PD) and (2) to determine the relation between clinically assessed rigidity and quantitative metrics of motor performance. BACKGROUND:Rigidity, the resistance to passive movement, is exacerbated in...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00067
更新日期:2013-06-05 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::Seventy years of research on Western Pacific amyotrophic lateral sclerosis and Parkinsonism-dementia Complex (ALS/PDC) have provided invaluable data on the etiology, molecular pathogenesis and latency of this disappearing, largely environmental neurodegenerative disease. ALS/PDC is linked to genotoxic chemicals (notab...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00754
更新日期:2019-07-31 00:00:00
abstract::Primary progressive aphasia (PPA) is a neurodegenerative disease characterized by declining language ability. However, the difficulty in defining the central clinical features in its earliest stage and establishing the dynamics of its progression has led to controversy. We report a 71-year-old man with Han language su...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.00075
更新日期:2018-02-16 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::Background: Most travelers experience Jet Lag Disorder (JLD) symptoms due to misalignment of their circadian rhythms with respect to the new time zone. We assessed the efficacy and safety of tasimelteon (HETLIOZ®) in healthy participants using a laboratory model of JLD induced by an 8-h phase advance of the sleep-wake...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00611
更新日期:2020-07-09 00:00:00