Abstract:
PURPOSE OF REVIEW:Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD encoding emerin and LMNA encoding A-type lamins, proteins of the nuclear envelope. In the past decade, there has been an extraordinary burst of research on the nuclear envelope. Discoveries resulting from this basic research have implications for better understanding the pathogenesis and developing treatments for EDMD. RECENT FINDINGS:Recent clinical research has confirmed that EDMD is one of several overlapping skeletal muscle phenotypes that can result from mutations in EMD and LMNA with dilated cardiomyopathy as a common feature. Basic research on the nuclear envelope has provided new insights into how A-type lamins and emerin function in force transmission throughout the cell, which may be particularly important in striated muscle. Much of the recent research has focused on the heart and LMNA mutations. Prevalence and outcome studies have confirmed the relative severity of cardiac disease. Robust mouse models of EDMD caused by LMNA mutations has allowed for further insight into pathogenic mechanisms and potentially beneficial therapeutic approaches. SUMMARY:Recent clinical and basic research on EDMD is gradually being translated to clinical practice and possibly novel therapies.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Muchir A,Worman HJdoi
10.1097/WCO.0000000000000741subject
Has Abstractpub_date
2019-10-01 00:00:00pages
728-734issue
5eissn
1350-7540issn
1473-6551pii
00019052-201910000-00012journal_volume
32pub_type
杂志文章,评审abstract::Recent findings from neuroimaging, event-related potential and lesion investigations reflect a rapidly emerging view that the memory system is widely distributed throughout the cortex. It is clear that the pattern of cortical involvement during encoding and retrieval of memories is critically dependent on the nature a...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200108000-00004
更新日期:2001-08-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide an update on the major advances in inflammatory myopathies. RECENT FINDINGS:Polymyositis is an uncommon disorder that can be misdiagnosed when the old, and never validated, criteria of Bohan and Peter are used. New diagnostic criteria were recently introduced, in which the MHC/CD8 complex ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200410000-00006
更新日期:2004-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Valproic acid (VPA) is one of the four first line antiepileptic drugs (AEDs). VPA is also an effective drug in migraine prophylaxis and in treatment of bipolar disorders. The use of VPA is limited by its two rare but potentially life-threatening side effects, teratogenicity and hepatotoxicity, and it ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000063774.81810.30
更新日期:2003-04-01 00:00:00
abstract::Recent advances in clinical neurophysiology of epilepsy have enhanced our ability to study the epileptogenic region and have improved the localization of seizures in patients with intractable epilepsy. Computed spike analyses using electroencephalogram or magnetoencephalography superimposed on magnetic resonance image...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199404000-00011
更新日期:1994-04-01 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:PURPOSE OF REVIEW:The exotic and emerging viral encephalitides are caused by animal or human viruses and characterised by sudden unexpected outbreaks of neurological disease, usually in tropical and sub-tropical regions, but sometimes spreading to temperate areas. Although a wide range of viruses come within this label...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000073944.19076.56
更新日期:2003-06-01 00:00:00
abstract:PURPOSE OF REVIEW:To describe the path of technological developments that have led to the actual application of MRI-guided focused ultrasound in multiple neurological disorders and to update the more recent technical advances in the field. An insight into the latest clinical achievements in movement disorders will be p...
journal_title:Current opinion in neurology
pub_type: 杂志文章
doi:10.1097/WCO.0000000000000840
更新日期:2020-08-01 00:00:00
abstract::Various functional imaging modalities can be applied in acute ischaemic stroke to identify functionally impaired, but morphologically preserved tissue (i.e. the penumbra), and to distinguish it from irreversibly damaged tissue. Flow thresholds for irreversible tissue destruction resulting in functional impairment, as ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200102000-00011
更新日期:2001-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Recent progress in serological screening for paraneoplastic autoantibodies and diagnostic imaging techniques to detect malignancies has resulted in a broadening of the concept of paraneoplastic neurologic syndromes through the characterization of nonclassical clinical features. The goal of this articl...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834a87b7
更新日期:2011-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The failure of N-methyl-D-aspartate receptor (NMDAR) antagonists as a treatment for human traumatic brain injury (TBI) and stroke, along with preclinical findings of a persistent hypofunctional state of these receptors after brain injury, resulted in a new focus on NMDAR agonists, specifically those a...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000612
更新日期:2018-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The 2016 WHO classification of tumors of the central nervous system (2016 CNS WHO) features many changes that are relevant to neurologists treating patients with brain tumors as well as neurologists involved in basic, clinical, and epidemiological research. This review summarizes what neurologists nee...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000490
更新日期:2017-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review provides an update on our knowledge regarding prevention and management of medication overuse headache (MOH). RECENT FINDINGS:The prevalence of MOH is 1-2% in the general population worldwide, and because of the tremendous socio-economic cost, it is likely to be the most costly neurologic...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328352c431
更新日期:2012-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim is to review sleep disturbances in different movement disorders, mainly Parkinson's disease, and highlight current concepts on merging the boundaries between movement disorders and dissociative states of being. RECENT FINDINGS:Since the observation that rapid eye movement sleep behavior disor...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3283632cef
更新日期:2013-08-01 00:00:00
abstract:PURPOSE OF REVIEW:This review discusses current data on nosological boundaries related to diagnosis, pathophysiology and therapeutic strategies in chronic tension-type headache (CTTH). RECENT FINDINGS:Diagnostic criteria of CTTH should be adapted to improve its sensitivity against migraine. It seems that mechanical pa...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32832973ce
更新日期:2009-06-01 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::Continuing advances have rendered the neural control of eye movements one of the best understood motor systems, from molecules to complex behaviors. Nevertheless, new discoveries have required re-evaluation of established concepts, from the genetics of disorders that affect extraocular muscles to the way in which the ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200202000-00008
更新日期:2002-02-01 00:00:00
abstract::The motoneuron has a strong ability to regenerate after injury. However, the problems of nerve cell survival after a proximal axotomy, difficulty in axonal elongation after intraspinal lesion and the lack of target specificity during nerve fibre regrowth interfere with a good functional restitution. Current research h...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200012000-00012
更新日期:2000-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review aims to describe new features on the epidemiology of encephalitis world-wide. As this neurological presentation is most frequently related to transmitted viruses, surveillance of encephalitis is of major importance to detect their emergence or re-emergence. RECENT FINDINGS:Rabies causes o...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000097
更新日期:2014-06-01 00:00:00
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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::Chlamydia pneumoniae is a common respiratory pathogen that is now being implicated in a number of chronic diseases. That the organism can infect vascular endothelium, macrophages and smooth muscle cells suggests that it may play a role in many systemic diseases. The present review focuses on the possibility that the c...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200106000-00015
更新日期:2001-06-01 00:00:00
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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::Two major entities continue to be controversial in the field of clinical myotoxicity: the various myopathies that are induced by the cholesterol-lowering agents and the acute quadriplegic myopathy of intensive care. Both conditions are relatively common, but their pathogenesis is unclear. The problematic issues relate...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200010000-00006
更新日期:2000-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Converging evidence from animal models of stroke and clinical trials suggests that aerobic exercise has effects across multiple targets. RECENT FINDINGS:The subacute phase is characterized by a period of heightened neuroplasticity when aerobic exercise has the potential to optimize recovery. In anima...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000383
更新日期:2016-12-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide an update on immunomodulating and immunosuppressive therapies in myasthenia gravis and highlight newly approved, or pending approval, therapies with new biologics. RECENT FINDINGS:Preoperative IVIg is not needed to prevent myasthenic crisis in stable myasthenia gravis patients scheduled fo...
journal_title:Current opinion in neurology
pub_type: 杂志文章
doi:10.1097/WCO.0000000000000858
更新日期:2020-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Understanding the mechanisms and abnormalities of respiratory function in neuromuscular disease is critical to supporting the patient and maintaining ventilation in the face of acute or chronic progressive impairment. RECENT FINDINGS:Retrospective clinical studies reviewing the care of patients with ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000363
更新日期:2016-10-01 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:Patients with acute life-threatening neuromuscular disease require close cooperation between neuromuscular and intensive care specialists to achieve the best possible outcomes. The problems encountered by these patients are different from those in traditional neuromuscular practice, and neurologists c...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000480
更新日期:2017-10-01 00:00:00
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journal_title:Current opinion in neurology
pub_type: 杂志文章
doi:10.1097/00019052-199604000-00012
更新日期:1996-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Status epilepticus refractory to first and second-line anticonvulsants represents an outstanding challenge to the medical team. This review covers new insights into the anaesthetic and intensive care of status epilepticus. RECENT FINDINGS:In the anaesthetic treatment of status epilepticus, barbiturat...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328042bacb
更新日期:2007-04-01 00:00:00
abstract:PURPOSE OF REVIEW:To review the clinical findings, differential diagnosis, treatment and outcome of pseudotumoral demyelinating lesions including tumefactive demyelination and Baló's concentric sclerosis. RECENT FINDINGS:MRI findings, such as dynamic restricted diffusion changes at the edge of pseudotumoral lesions he...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000683
更新日期:2019-06-01 00:00:00