Abstract:
PURPOSE OF REVIEW:This review focuses on recent advances in the diagnostic approaches and the underlying pathophysiological mechanisms of Charcot-Marie-Tooth (CMT) disease. We also discuss the emerging therapies for this hereditary neuropathy. RECENT FINDINGS:To date, numerous genes are implicated in CMT, and new genes have recently been found to be associated with this neuropathy (INF2, FBLN5, etc.). Some specific or evocative clinical signs of CMT subtypes (proteinuria with INF2 mutations, etc.) have been identified. Characteristic pathological findings, which may suggest gene mutations, are also recognized by nerve biopsy (mainly ultrastructural lesions). SUMMARY:CMT disease is the most common inherited neuromuscular disorder, with a fairly homogeneous clinical phenotype (progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes). With more than 40 genes implicated, an update of the present and rather confusing classification of CMT is needed. Over the last few years, new mutated genes have been discovered. Although nerve biopsy is not routinely carried out in CMT neuropathies, it may show characteristic features, which can orientate the search for the mutated gene. There are currently no effective medications for CMT, but clinical trials are ongoing or planned.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Vallat JM,Mathis S,Funalot Bdoi
10.1097/WCO.0b013e328364c04bsubject
Has Abstractpub_date
2013-10-01 00:00:00pages
473-80issue
5eissn
1350-7540issn
1473-6551journal_volume
26pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:This review highlights recent advances in cochlear gene therapy over the past several years. Cochlear gene therapy has undergone tremendous advances over the past decade. Beginning with some groundbreaking work in 2005 documenting hair cell regeneration using virally mediated delivery of the mouse ato...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834f038c
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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
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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
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doi:10.1097/WCO.0b013e328340296f
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journal_title:Current opinion in neurology
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abstract:PURPOSE OF REVIEW:Gadolinium-enhancement depicts blood-brain barrier disruption associated with new inflammatory MRI lesions in multiple sclerosis (MS) and is widely used for diagnosis and therapeutic monitoring. However, earlier and more specific markers of inflammation are urgently needed. RECENT FINDINGS:Susceptibi...
journal_title:Current opinion in neurology
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更新日期:2016-06-01 00:00:00
abstract::With respect to diverse clinical applications for muscle regeneration, this paper discusses the latest markers for identifying skeletal muscle precursor cells in regenerating muscle, the implications of alternative sources of myogenic precursor cells and putative stem cells, and the current status of administration of...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000199
更新日期:2015-06-01 00:00:00
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journal_title:Current opinion in neurology
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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,评审
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更新日期:2012-08-01 00:00:00
abstract::Magnetic resonance spectroscopy allows neurochemistry to be probed noninvasively in vivo. Recent advances in our understanding of the biochemical significance of the various neurochemicals that are observable allow a variety of pathologic states of relevance to encephalopathies and neurodegenerative disorders to be ob...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:1999-12-01 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.0000000000000683
更新日期:2019-06-01 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.0b013e3281fbd3dd
更新日期:2007-08-01 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:Stroke is the third leading cause of death after myocardial infarction and cancer, and is the leading cause of permanent disability and disability-adjusted loss of independent life-years in western countries. Thrombolysis is the treatment of choice for acute stroke within 3 h after the onset of sympto...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200402000-00012
更新日期:2004-02-01 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:Despite the extensive research carried out in the past decades, the current pathophysiological notions of neurodegenerative disease as well as effective treatments to reduce their progression are largely unknown. Alterations of the human microbiota, the plethora of different microscopic organisms that...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000496
更新日期:2017-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review on traumatic brain injury consolidates the substantial current literature available on the pathophysiology, mechanisms, developments, and their subsequent effects on outcome. In particular, it tries to conceptualize why our greatly improved understanding of pathophysiology and neurobiology...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200412000-00011
更新日期:2004-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Campylobacter jejuni is the most frequent agent of antecedent infection in an axonal variant of Guillain-Barré syndrome, acute motor axonal neuropathy, and anti-GM1 or anti-GD1a IgG antibody is also associated with acute motor axonal neuropathy. Molecular mimicry has been found between human GM1 gangl...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2005-10-01 00:00:00
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journal_title:Current opinion in neurology
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更新日期:2019-12-01 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.0b013e328012da60
更新日期:2007-02-01 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
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更新日期:2012-06-01 00:00:00
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200012000-00002
更新日期:2000-12-01 00:00:00
abstract::Slowly, advances are being made in the understanding and treatment of primary childhood brain tumors. The addition of chemotherapy has resulted in better survival for children with medulloblastoma. For other tumor types, therapeutic advances have been slower. High-dose chemotherapy is increasingly being employed to tr...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:1997-12-01 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.0b013e32834cd495
更新日期:2011-12-01 00:00:00
abstract::This paper reviews clinical reports of various movement disorders (dystonia, chorea, ballism and parkinsonism) caused by well defined lesions of the putamen, globus pallidus, substantia nigra, thalamus and subthalamus. The role of basal ganglia in motor control is also emphasized. ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:
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journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2018-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Traumatic brain injury (TBI) is a leading cause of death and disability in children. Prognostication of outcome following TBI is challenging in this population and likely requires complex, multimodal models to achieve clinically relevant accuracy. This review highlights injury characteristics, physiol...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
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更新日期:2017-12-01 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