Abstract:
PURPOSE OF REVIEW:The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders. RECENT FINDINGS:More than 10 genes that cause axonal CMT have been identified over the past decade. Many of these genes express proteins that are ubiquitously expressed. Clinical phenotypes of many of these disorders are being studied and animal and cellular models of these neuropathies have been created. SUMMARY:Identification of these new genetic causes of axonal neuropathy has not only been important for patients and their families but it has also provided exciting new information about disease mechanisms involved in neuronal degeneration. These mechanisms extend beyond the field of axonal CMT and have relevance to sensory neuropathies and motor neuron disorders. Therapeutic strategies for some of these are also provided. We hope that this review will be of interest to clinicians and scientists interested in axonal forms of CMT.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Shy ME,Patzkó Adoi
10.1097/WCO.0b013e32834aa331subject
Has Abstractpub_date
2011-10-01 00:00:00pages
475-83issue
5eissn
1350-7540issn
1473-6551journal_volume
24pub_type
杂志文章,评审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:The traditional focus of neurorehabilitaion has been on the patients' attention on their deficit, such that they should become aware of their problems and gain intentional control of compensatory strategies (descending approach). We review prism adaptation as one of the approaches that emphasize ascen...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328010924b
更新日期:2006-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Ten years of intensive research are now beginning to bring candidate neuroprotective therapies to clinical trials. This review describes recent progress in basic, preclinical, and clinical research that underlies current and potential neuroprotective trials. RECENT FINDINGS:Basic research continues t...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000084229.82329.03
更新日期:2003-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Longitudinal studies that use MRI scans performed over multiple time-points have been increasingly employed in the study of different neurological disorders, including degenerative dementia, multiple sclerosis, and epilepsy. RECENT FINDINGS:Although it is well established that increased rates of brai...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32830719d4
更新日期:2008-08-01 00:00:00
abstract:PURPOSE OF REVIEW:To review recent developments in the application of stem cells for transplantation therapies in neurodegenerative diseases. RECENT FINDINGS:Stem cell transplantation has the potential to improve function by replacing cells lost to the disease and reconstructing elements of neural circuitry or by prov...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3282f132fc
更新日期:2007-12-01 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: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 a...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000180
更新日期:2015-04-01 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::A relatively small number of studies were published on the intra-arterial therapy of stroke in the past year. Those reports, however, do offer strong evidence for the feasibility and safety of this therapeutic approach. Partly on the basis of these data it has become evident that the intra-arterial thrombolytic therap...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200002000-00010
更新日期:2000-02-01 00:00:00
abstract:PURPOSE OF REVIEW:This article reviews the most significant advances concerning the neural correlates of decision-making with emphasis on those imaging studies investigating the neural implementation of evaluative judgment processes. This is done against the background of current concepts from the field of judgment and...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000236621.83872.71
更新日期:2006-08-01 00:00:00
abstract:PURPOSE OF REVIEW:To summarize the application of advanced MRI sequences such as magnetic resonance spectroscopy, diffusion tensor imaging and functional MRI for the evaluation of patients with altered consciousness. RECENT FINDINGS:Magnetic resonance spectroscopy, volumetry and diffusion tensor imaging have shown pro...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3282f169ec
更新日期:2007-12-01 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: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: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:Gliomas represent a disparate group of malignancies with varying clinical outcomes despite a tremendous amount of time, effort, and resources dedicated to their management and understanding. The most aggressive entity, glioblastoma, has a dismal prognosis with poor local control despite intense local ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000760
更新日期:2019-12-01 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: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: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:Human ischemic stroke is a multistage disorder with different options for recovery. Imaging has opened a window to explore the pathophysiology and recovery mechanisms of ischemic stroke in vivo. RECENT FINDINGS:It was shown that in the acute phase, arterial recanalization and reperfusion are the most...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328334c84d
更新日期:2010-02-01 00:00:00
abstract:PURPOSE OF REVIEW:To summarize the currently known side effects of the approved therapies of multiple sclerosis and to suggest monitoring procedures. RECENT FINDINGS:The progress in the treatment of multiple sclerosis with new very effective therapies is accompanied by a number of side effects. Some of these have alre...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000824
更新日期:2020-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The cause of multiple sclerosis remains elusive. We review recent epidemiological studies of genetic and environmental factors that influence susceptibility to the disease and its clinical course. RECENT FINDINGS:Genetic advances strengthen the association of multiple sclerosis with the human leukocy...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000227033.47458.82
更新日期:2006-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Clinical MRI is of paramount importance for multiple sclerosis diagnosis but lacks the specificity to investigate the pathogenic mechanisms underlying disease onset and progression. The application of advanced MR sequences allows the characterization of diverse and complex pathological mechanisms, gra...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000559
更新日期:2018-06-01 00:00:00
abstract::Stimulated by the impressive effect of interferon beta on magnetic resonance imaging-detected disease activity, the past year or so has seen a particular interest in the use of magnetic resonance imaging to monitor treatment. To be effective in this regard, there needs to be a high sensitivity and accuracy in detectin...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199506000-00009
更新日期:1995-06-01 00:00:00
abstract:PURPOSE OF REVIEW:We present an overview of recent concepts in mechanisms underlying cognitive decline associated with brain aging and neurodegeneration from the perspective of MRI. RECENT FINDINGS:Recent findings challenge the established link between neuroimaging biomarkers of neurodegeneration and age-related or di...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000029
更新日期:2013-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review of recent work in the area of neurorehabilitation of multiple sclerosis patients surveys progress and underscores the need for further work to evaluate the effectiveness of treatments. RECENT FINDINGS:Several recent review documents have summarized the current position regarding neuroreha...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000169743.37159.a0
更新日期:2005-06-01 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::This paper reviews current knowledge about epileptogenesis in the developing brain. Animal studies indicate that the maturational balance of excitatory and inhibitory neurotransmitter systems should result in an increased susceptibility to seizures. However, the reason for specific age-locked syndromes and the high ra...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199804000-00006
更新日期:1998-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Only two functionally validated susceptibility genes, CACNA1H and GABRD, have so far been identified in the common epilepsies using a candidate gene approach. The difficulty with the alternative statistical approach, where none of the suggested candidates has been functionally validated, may partly be...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000218232.66054.46
更新日期:2006-04-01 00:00:00
abstract:PURPOSE OF REVIEW:There is an urgent need for effective therapies to restore neurologic function and decrease disability following traumatic brain injury (TBI). Here, emerging findings on the mechanisms of post-TBI neural repair and regeneration, as well as therapeutic implications, are selectively reviewed. RECENT FI...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000265
更新日期:2015-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Experimental and clinical studies have suggested that epileptic seizures can be modulated or interrupted by electrical stimulations of subcortical structures that may exert a remote control on seizure generators. The aim of this review is to present these recent reports and to address the perspectives...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3283374a39
更新日期:2010-04-01 00:00:00