Abstract:
PURPOSE OF REVIEW:Genetic discovery has been extremely rapid over the last year, with many new discoveries illuminating novel mechanisms and pathways. In particular, the application of whole exome and whole genome sequencing has identified many new genetic causes of the epilepsies. As such methods become increasingly available, it will be critical for practicing neurologists to be acquainted with them. This review surveys some important developments over the last year. RECENT FINDINGS:The range of tests available to the clinician is wide, and likely soon to be dominated by whole exome and whole genome sequencing. Both whole exome and whole genome sequencing have usually proven to be more powerful than most existing tests. Many new genes have been implicated in the epilepsies, with emerging evidence of the involvement of particular multigene pathways. SUMMARY:For the practicing clinician, it will be important to appreciate progress in the field, and to prepare for the application of novel genetic testing in clinical practice, as genetic data are likely to contribute importantly for many people with epilepsy.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Sisodiya SMdoi
10.1097/WCO.0000000000000180subject
Has Abstractpub_date
2015-04-01 00:00:00pages
136-42issue
2eissn
1350-7540issn
1473-6551journal_volume
28pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:Cerebral amyloid angiopathy (CAA) is diagnosed primarily as a cause of lobar intracerebral hemorrhages (ICH) in elderly patients. With improving MRI techniques, however, the role of CAA in causing other symptoms has become clear. Recognizing the full clinical spectrum of CAA is important for diagnosis...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000510
更新日期:2018-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Recent advances in survival for patients with newly diagnosed and recurrent brain tumors, combined with the development of an ever-increasing number of potential treatments, has led to significant growth in the number of clinical trials for patients with brain tumors. Suitable clinical trial design an...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328359b45e
更新日期:2012-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias. RECENT FINDINGS:Important recent observations include insights into the mechanisms by which expanded polyglutamine causes cerebellar degeneration; new findings regarding how noncoding expansions may...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3281fbd3dd
更新日期:2007-08-01 00:00:00
abstract::The phakomatoses are a diverse group of diseases characterized by skin lesions in early childhood followed by the development of tumors in many other organs. Tuberous sclerosis complex and neurofibromatosis 1 are of special interest to the neurologist because of their prominent neuro-oncological and neuro-developmenta...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200104000-00005
更新日期:2001-04-01 00:00:00
abstract::Disability following head injury varies depending on injury mechanism, neuropathology, and other factors, including medical complications. Mild head injury (Glasgow Coma Scale score 13-15) has been shown to have considerable variability in outcome. Some persons experience rapid symptom resolution whereas others contin...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199310000-00016
更新日期:1993-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Is multiple sclerosis (MS) a generalized disease of the central nervous system? Or put another way, is MS pathology primarily focal with global consequences or global with focal consequences? Consideration of this question depends on how you view it both spatially and temporally. In this review, we ad...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/wco.0b013e32832b4c62
更新日期:2009-06-01 00:00:00
abstract::An increasing number of mutations in the CACNA1A gene have been identified, which are associated with a broad clinical spectrum, including familial hemiplegic migraine. Transfection studies and mouse model analyses are currently being undertaken to study the correlation between CACNA1A mutations and disease. ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200206000-00014
更新日期:2002-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Preterm infants are at high risk for neurological sequelae and cognitive dysfunction. These problems have been attributed to a high occurrence of central nervous system (CNS) lesions, but suboptimal brain development appears to be just as important. In this brief review we present the hypothesis that ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000162851.44897.8f
更新日期:2005-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Severe childhood traumatic brain injury (TBI) is the leading cause of death and acquired disability in children, causing impairments in children's sensory-motor, cognitive and behavioural functioning, with devastating consequences on community integration. Community integration is the ultimate goal of...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328340296f
更新日期:2010-12-01 00:00:00
abstract:PURPOSE OF REVIEW:To describe the background, principles and implementation of the Stroke Action Plan for Europe 2018--2030 (SAP-E) in the perspective of the current COVID-19 pandemic. RECENT FINDINGS:SAP-E sets targets for the implementation of evidence-based preventive actions and stroke services to 2030. A recent m...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000893
更新日期:2021-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The present review will outline neuroprotective and neurotoxic effects of central nervous system (CNS) infiltrating T cells during viral infections. Evidence demonstrating differential roles for antiviral effector and resident memory T-cell subsets in virologic control and immunopathology in the CNS w...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000825
更新日期:2020-06-01 00:00:00
abstract:PURPOSE OF REVIEW:To summarize clinical key points, diagnostic features, and results of imaging and therapy of spinal dural arteriovenous fistula (SDAVF). RECENT FINDINGS:SDAVF accounts for 70% of spinal arteriovenous malformation with an annual incidence of 5-10 cases per million. At least 80% of patients are male, a...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000200547.22292.11
更新日期:2006-02-01 00:00:00
abstract:PURPOSE OF REVIEW:To review some aspects of the relationship between epilepsy and depression that have recently received increasing attention and may become major research topics in the near future. RECENT FINDINGS:Epidemiological studies show that depression and suicide are, in some cases, premorbid symptoms precedin...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000431
更新日期:2017-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic and often disabling neuropathy, which often responds to immune therapies including corticosteroids, plasma exchange, and high-dose intravenous immunoglobulin (IVIg). The reasons for choosing one of these therapies and the fa...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000232
更新日期:2015-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The development of successful myelin repair strategies depends on the detailed knowledge of the cellular and molecular processes underlying demyelination and remyelination in the central nervous system of animal models and in patients with multiple sclerosis (MS). Based on the complexity of the demyel...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3282fd1875
更新日期:2008-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Neurodegenerative tauopathies, of which progressive supranuclear palsy (PSP) is one of the most common, are clinically heterogeneous, reflecting differences in distribution and biochemical composition of tau pathology. This review highlights the range of clinical and pathologic presentations of PSP an...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32833be924
更新日期:2010-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The trigeminal autonomic reflex is a physiological reflex with an important protective function which also plays a role in pathophysiological conditions, such as primary headache. It is not understood whether the autonomic symptoms in trigeminal autonomic cephalalgias and migraine are the consequence ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000691
更新日期:2019-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Most patients suffering from muscular dystrophies can now obtain a precise diagnosis of their underlying molecular defect, but no efficient treatment to prevent disability and death. This review summarizes recent progress towards developing efficient treatments for these severe diseases. RECENT FINDI...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200210000-00007
更新日期:2002-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Tension-type headache is the most common type of headache and, in its chronic form, one of the most neglected and difficult types of headache to treat. Recently published data will be reviewed. RECENT FINDINGS:The prevalence of frequent tension-type headache increased significantly from 1989 to 2001,...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000227043.00824.a9
更新日期:2006-06-01 00:00:00
abstract:PURPOSE OF REVIEW:This review considers the role of neuroimaging in developmental disorders by highlighting recent studies in two distinct, but overlapping, developmental disorders: autism and fragile X syndrome. RECENT FINDINGS:After a decade of conflicting results in neuroimaging studies of autism, recent studies ha...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000063763.15877.d2
更新日期:2003-04-01 00:00:00
abstract::Magnetic resonance spectroscopy provides noninvasive insight into the regional and global biochemical alterations that are concomitants of the dynamic processes that underlie the evolution of fundamental pathologic changes in multiple sclerosis. These include now well-recognized alterations of neuronal biochemical mar...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200206000-00004
更新日期:2002-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Migraine has traditionally been categorized as a pain disorder, focusing on headache as its central feature. This narrow view does not account for the complex array of premonitory and postrdromal symptoms that occur in the hours before and after headache. This review outlines evidence that supports a ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32836085f4
更新日期:2013-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The risk of suicide is thought be increased in epilepsy. Antiepileptic drugs (AEDs) remain the primary treatment. An FDA alert in 2008 raised concerns that AEDs may increase the risk of suicidal thoughts and behaviour. The risk profile for suicide in epilepsy is examined in the context of recent repor...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328344533e
更新日期:2011-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Research on the pathophysiology of syndromic autism spectrum disorder (ASD) has contributed to the uncovering of mechanisms in nonsyndromic ASD. The current review aims to compare recent progress in therapeutics development for ASD with those for fragile X syndrome (FXS), the most frequent monogenic f...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000703
更新日期:2019-08-01 00:00:00
abstract::New reports of the incidence, prevalence and mortality of Parkinson's disease and parkinsonism are reviewed. Evidence for occupational and lifestyle risk factors and protective factors is updated. Recent genetic epidemiology studies of parkinsonism in twins and families, and studies that investigated imaging and physi...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200008000-00010
更新日期:2000-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The influence of anxiety on ocular motor control and gaze has received less research attention than its effects on postural control and locomotion. This review summarizes research on trait anxiety, state anxiety, anxiety disorders, ocular motor reflexes, and gaze. It applies these findings to clinical...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000055
更新日期:2014-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Malingered anterograde amnesia is a phenomenon that has been exhaustively studied, whereas research on retrograde amnesia has tended to focus upon functional and organic accounts of impairment. The present review explores studies relevant to extending the malingering paradigm to retrograde amnesia. R...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32833299bb
更新日期:2009-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The role of chemotherapy in low-grade glioma has been redefined with the long-term follow-up of the RTOG 9802, which investigated adjuvant procarbazine, CCNU, and vincristine (PCV) chemotherapy in addition to radiotherapy, and the results of EORTC trial 22033 in a similar patient population that compa...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000257
更新日期:2015-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This article will highlight recent advances in dystonia with focus on clinical aspects such as the new classification, syndromic approach, new gene discoveries and genotype-phenotype correlations. Broadening of phenotype of some of the previously described hereditary dystonias and environmental risk f...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000114
更新日期:2014-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The computational power of the brain arises from the complex interactions between neurons. One straightforward method to quantify the strength of neuronal interactions is by measuring correlation and coherence. Efforts to measure correlation have been advancing rapidly of late, spurred by the developm...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000512
更新日期:2018-02-01 00:00:00