Abstract：
BACKGROUND:Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary microcephaly. However, the cause of microcephaly remains unclear in many cases after extensive investigations and genetic screening. CASE PRESENTATION:Here, we described the case of a boy with primary microcephaly who presented to a neurology clinic with short stature, global development delay, dyskinetic movement, strabismus and dysmorphic features. We performed microcephaly investigations and genetic panels. Then, we performed whole-exome sequencing to identify any genetic cause. Microcephaly investigations and genetic panels were negative, but we found a new D317V homozygous mutation in TELOE-2 interacting protein 2 (TTI2) gene by whole-exome sequencing. TTI2 is implicated in DNA damage response and mutation in that gene was previously described in mental retardation, autosomal recessive 39. CONCLUSIONS:We described the first French Canadian case with primary microcephaly and global developmental delay secondary to a new D317V homozygous mutation in TTI2 gene. Our report also highlights the importance of TTI2 protein in brain development.
journal_name
BMC Neuroljournal_title
BMC neurologyauthors
Picher-Martel V,Labrie Y,Rivest S,Lace B,Chrestian Ndoi
10.1186/s12883-020-01643-1subject
Has Abstractpub_date
2020-02-15 00:00:00pages
58issue
1issn
1471-2377pii
10.1186/s12883-020-01643-1journal_volume
20pub_type
杂志文章相关文献
BMC Neurology文献大全abstract：BACKGROUND:Neuroprotective strategies after cardiopulmonary resuscitation are currently the focus of experimental and clinical research. Levosimendan has been proposed as a promising drug candidate because of its cardioprotective properties, improved haemodynamic effects in vivo and reduced traumatic brain injury in vi...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/1471-2377-12-81
更新日期：2012-08-24 00:00:00
abstract：BACKGROUND:Hydrocephalus is a common, life threatening complication of human immunodeficiency virus (HIV)-related central nervous system opportunistic infection which can be treated by insertion of a ventriculoperitoneal shunt (VPS). In HIV-infected patients there is concern that VPS might be associated with unacceptab...
journal_title：BMC neurology
pub_type： 杂志文章,meta分析
doi：10.1186/s12883-020-01713-4
更新日期：2020-04-17 00:00:00
abstract：BACKGROUND:The partial form of the complex regional pain syndrome of the hand type 1 (CRPS 1), involving only 1 to 3 fingers, is a rare condition first described in 1972. The aim of the study is to define more precisely the diagnosis workup and the prognosis of this clinical entity. METHODS:Retrospective study of CRPS...
journal_title：BMC neurology
pub_type： 杂志文章,评审
doi：10.1186/1471-2377-13-28
更新日期：2013-03-18 00:00:00
abstract：BACKGROUND:Cardioembolic stroke (CES) due to atrial fibrillation (AF) is associated with high stroke mortality. Oral anticoagulation (OAC) reduces stroke mortality, however, the impact of OAC-administration during hospital stay post ischemic stroke on mortality is unclear. We determined whether the timing of OAC initia...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-014-0199-7
更新日期：2014-10-08 00:00:00
abstract：BACKGROUND:While both hypercapnia and hypocapnia are harmful in patients with subarachnoid hemorrhage (SAH), it is unknown whether high-normal PaCO2 values are better than low-normal values. We hypothesized that high-normal PaCO2 values have more detrimental than beneficial effects on outcome. METHODS:Consecutive pati...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-020-1603-0
更新日期：2020-01-20 00:00:00
abstract：BACKGROUND:Decision-making is an essential function of everyday life. Decision-making under explicit risk requires developing advantageous decision strategies based on fixed outcomes (e.g., probabilities of winning or losing a bet). Decision-making and its neural substrates have been rarely studied in MS. We expected p...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-015-0318-0
更新日期：2015-04-23 00:00:00
abstract：BACKGROUND:Silent brain infarcts are detected by neuroimaging in up to 20% of asymptomatic patients based on population studies. They are five times more frequent than stroke in general population, and increase significantly both with advancing age and hypertension. Moreover, they are independently associated with the ...
journal_title：BMC neurology
pub_type： 杂志文章,随机对照试验
doi：10.1186/1471-2377-13-130
更新日期：2013-10-02 00:00:00
abstract：BACKGROUND:Given the increasing emphasis on the community management of spinal cord injury (SCI), strategies that could be developed and implemented in order to empower and engage individuals with SCI in promoting their health and minimizing the risk of health conditions are required. A self-management program could be...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-014-0209-9
更新日期：2014-10-21 00:00:00
abstract：BACKGROUND:The benefit of intravenous thrombolysis (IVT) for acute ischemic stroke is time dependent. Despite great effort, the median door-to-needle time (DNT) was 60 min at the United States stroke centers. We investigated the effect of a simple quality improvement initiative on DNT for IVT. METHODS:This is a single...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-019-1527-8
更新日期：2019-11-26 00:00:00
abstract：BACKGROUND:The clinical features of Alzheimer's disease (AD) are related to brain network degeneration, and hyperhomocysteinemia is related to greater white matter hyperintensities. We investigated the changes in four diffusion tensor imaging parameters in the white matter of patients with early stage AD, examined thei...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-017-0970-7
更新日期：2017-10-06 00:00:00
abstract：BACKGROUND:This multicenter, double-blind, placebo-controlled study assessed the efficacy of rotigotine transdermal patch on apathy and motor symptoms in patients with Parkinson's disease (PD). METHODS:Patients with PD-associated apathy (Unified Parkinson's Disease Rating Scale [UPDRS] I item 4 [motivation] ≥2 and pat...
journal_title：BMC neurology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1186/s12883-016-0610-7
更新日期：2016-06-07 00:00:00
abstract：BACKGROUND:Recent exercise guidelines for people with multiple sclerosis (MS) recommend a minimum of 30 min moderate intensity aerobic exercise and resistance exercise twice per week. This trial compared the secondary outcomes of a combined 10-week guideline based intervention and a Social Cognitive Theory (SCT) educat...
journal_title：BMC neurology
pub_type： 杂志文章,随机对照试验
doi：10.1186/s12883-017-0898-y
更新日期：2017-06-24 00:00:00
abstract：BACKGROUND:Muscle fibrosis characterizes degenerated muscles in muscular dystrophies and in late onset myopathies. Fibrotic muscles often exhibit thickening of the extracellular matrix (ECM). The molecular regulation of this process is not fully understood. In oculopharyngeal muscular dystrophy (OPMD), an expansion of ...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/1471-2377-13-70
更新日期：2013-07-01 00:00:00
abstract：BACKGROUND:A description of the complexity of the process of self-management and the way stroke survivors give meaning to their process of self-management post-stroke is lacking. This study explores how stroke survivors managed their lives, gave meaning to their self-management post-stroke and how this evolved over tim...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-016-0739-4
更新日期：2016-11-15 00:00:00
abstract：BACKGROUND:Postherpetic neuralgia (PHN) is a painful and difficult to treat complication of acute herpes zoster. Current treatment options provide only partial relief and are often limited by poor tolerability. We evaluated the safety and efficacy of a single 60-minute application of NGX-4010, an 8% capsaicin patch, in...
journal_title：BMC neurology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1186/1471-2377-10-92
更新日期：2010-10-11 00:00:00
abstract：BACKGROUND:The Migraine Disability Assessment (MIDAS) questionnaire is widely used to determine the degree of migraine-related disability of subjects. So far, and to the best of our knowledge, no Spanish version of this tool has been validated. The questionnaire comprises seven items, with the first five constituting t...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-020-01646-y
更新日期：2020-02-24 00:00:00
abstract：BACKGROUND:Human cytomegalovirus (CMV) is an ubiquitous pathogen capable of modulating the host immune system. Immune dysfunction is common during CMV infection and includes autoimmune phenomena. Here we focus on a case of primary CMV infection associated with encephalopathy in a patient with a rudimentary spleen. We d...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/1471-2377-12-87
更新日期：2012-09-04 00:00:00
abstract：BACKGROUND:Internal jugular vein stenosis (IJVS), characterized by a series of clinical manifestations, such as head and neck symptoms, visual and ear symptoms, as well as sleep disorder, has been receiving attention in recent years. However, its' etiologies are not fully understood. CASE PRESENTATION:We report a case...
journal_title：BMC neurology
pub_type： 杂志文章,评审
doi：10.1186/s12883-019-1344-0
更新日期：2019-06-04 00:00:00
abstract：BACKGROUND:Cholinesterase inhibitors remain the first line therapy for people with mild to moderate Alzheimer's disease (AD). Response is modest and difficult to predict from pre-treatment characteristics. We hypothesise that skin vascular response to iontophoresis of acetylcholine, which is partly determined by the le...
journal_title：BMC neurology
pub_type： 临床试验,杂志文章
doi：10.1186/s12883-019-1316-4
更新日期：2019-05-03 00:00:00
abstract：BACKGROUND:Dopaminergic neuronal loss begins years before motor symptoms appear in Parkinson disease (PD). Thus, reliable biomarkers for early diagnosis and prognosis of PD are an essential pre-requisite to develop disease modifying therapies. Inflammation-derived oxidative stress is postulated to contribute to nigrost...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-019-1286-6
更新日期：2019-04-06 00:00:00
abstract：BACKGROUND:Detecting malingering or exaggeration of impairments in brain function after traumatic brain injury is of increasing importance in neuropsychological assessment. Lawyers involved in brain injury litigation cases routinely coach their clients how to approach neuropsychological testing to their advantage. Thus...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/1471-2377-8-37
更新日期：2008-10-07 00:00:00
abstract：BACKGROUND:There is much discourse in healthcare about the importance of client-centred rehabilitation, however in the realm of community-based therapy post-stroke there has been little investigation into the efficacy of goal-directed practice that reflects patients' valued activities. In addition, the effect of active...
journal_title：BMC neurology
pub_type： 杂志文章,随机对照试验
doi：10.1186/1471-2377-11-73
更新日期：2011-06-18 00:00:00
abstract：:The term paraproteinemic neuropathy describes a heterogeneous set of neuropathies characterized by the presence of homogeneous immunoglobulin in the serum. An abnormal clonal proliferation of B-lymphocytes or plasma cells, which may or may not occur in the context of a hematologic malignancy, produces the immunoglobul...
journal_title：BMC neurology
pub_type： 杂志文章,评审
doi：10.1186/s12883-016-0532-4
更新日期：2016-01-28 00:00:00
abstract：BACKGROUND:Selective serotonin reuptake inhibitors (SSRIs) are the most commonly prescribed antidepressants for the treatment of depression in patients with Parkinson's Disease (PD) but data on their efficacy are controversial. METHODS:We conducted a systematic review and meta-analysis of randomized controlled trials ...
journal_title：BMC neurology
pub_type： 杂志文章,meta分析,评审
doi：10.1186/1471-2377-10-49
更新日期：2010-06-21 00:00:00
abstract：BACKGROUND:Surgery is a potential trigger of Guillain-Barré syndrome (GBS), a disorder which leads to an autoimmune-mediated attack of peripheral nerves. The present study was designed to explore clinical features of post-surgical GBS compared with those of general GBS in order to provide better clinical advice to pati...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-021-02067-1
更新日期：2021-01-28 00:00:00
abstract：BACKGROUND:Epigenetics underlying refractory epilepsy is poorly understood. DNA methylation may affect gene expression in epilepsy patients without affecting DNA sequences. Herein, we investigated the association between Carbamazepine-resistant (CBZ-resistant) epilepsy and EPHX1 methylation in a northern Han Chinese po...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-019-1308-4
更新日期：2019-06-04 00:00:00
abstract：BACKGROUND:Friedreich ataxia is a neurological disease originating from an iron-sulfur cluster enzyme deficiency due to impaired iron handling in the mitochondrion, aconitase being particularly affected. As a mean to counteract disease progression, it has been suggested to chelate free mitochondrial iron. Recent years ...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/1471-2377-8-20
更新日期：2008-06-16 00:00:00
abstract：BACKGROUND:Type 2 Diabetes in Mexico has a high prevalence, 16-87% of patients may experience peripheral neuropathy. Early detection can prevent or halt its progression. The performance of Sudoscan in detecting neuropathy was compared to the Michigan Neuropathy Screening Instrument (MNSI). The aim was to identificate s...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-019-1332-4
更新日期：2019-05-31 00:00:00
abstract：BACKGROUND:Limb Girdle Muscular Dystrophy (LGMD), caused by defective α-dystroglycan (α-DG) glycosylation, was recently associated with mutations in Isoprenoid synthase domain-containing (ISPD) and GDP-mannose pyrophosphorylase B (GMPPB) genes. The frequency of ISPD and GMPPB gene mutations in the LGMD population is un...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/s12883-015-0428-8
更新日期：2015-09-24 00:00:00
abstract：BACKGROUND:The two human cerebral hemispheres are continuously interacting, through excitatory and inhibitory influences and one critical structure subserving this interhemispheric balance is the corpus callosum. Interhemispheric neurophysiological abnormalities and intrahemispheric behavioral impairments have been rep...
journal_title：BMC neurology
pub_type： 杂志文章
doi：10.1186/1471-2377-6-21
更新日期：2006-06-21 00:00:00
