Abstract:
:Deletion of the 1.5 Mb tract on chromosome 17p11.2-12 that is duplicated in Charcot-Marie-Tooth disease type 1A is commonly associated with hereditary neuropathy with liability to pressure palsies. The deletion, which originates from an unequal meiotic crossover involving two homologous repeats, causes underexpression of the peripheral myelin protein gene PMP22. PMP22 frameshift and non-sense mutations can be found in the rare nondeleted cases. Targeted disruption of the PMP22 gene in mice has provided an animal model for the disease. Current studies are aimed at characterising the genetics of this chromosomal rearrangement and the pathogenic role of altered PMP22 expression.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Pareyson D,Taroni Fdoi
10.1097/00019052-199610000-00006subject
Has Abstractpub_date
1996-10-01 00:00:00pages
348-54issue
5eissn
1350-7540issn
1473-6551journal_volume
9pub_type
杂志文章,评审abstract::In multifocal motor or sensorimotor neuropathy with persistent conduction block, most of the recent research has concerned treatment. Open trials show that intravenous immunoglobulin is effective, providing a rapid and often marked clinical improvement, accompanied by a significant reduction of conduction block in som...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199510000-00006
更新日期:1995-10-01 00:00:00
abstract::Autoimmune ataxic neuropathies are a subset of the sensory ataxic neuropathies which are characterized by ataxia as the dominant presenting feature. The major known causes of autoimmune ataxic neuropathies include sensory variants of the Guillain-Barré syndrome, including Miller-Fisher syndrome, subsets of immunoglobu...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199710000-00002
更新日期:1997-10-01 00:00:00
abstract:PURPOSE OF REVIEW:This review summarizes the recent studies assessing patients with psychogenic nonepileptic seizures and developments in treatment. RECENT FINDINGS:The misdiagnosis of nonepileptic seizure is costly to patients, the healthcare system, and to society. Patients with nonepileptic seizures are prescribed ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3282f7008f
更新日期:2008-04-01 00:00:00
abstract::Although spreading depression has been known for over 50 years, recent research into this interesting experimental phenomenon provides evidence for an integrative role of spreading depression in brain pathophysiology. Spreading depression activates neurophysiological pathways that may have widespread consequences on b...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199806000-00006
更新日期:1998-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Homonymous hemianopia is the commonest form of acquired homonymous visual field defect; the usual causes are stroke, head injury and intracranial tumours. This impairment can affect a variety of cognitive visual functions, including visual search, safe navigation through changing environments and read...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32831f1b2c
更新日期:2009-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Small vessel diseases of the brain are still clinically underrecognized whereas their burden is increasing steeply. The most frequent is acquired degenerative small vessel disease. Many hereditary or idiopathic small vessel diseases have also been identified, of which cerebral autosomal-dominant arter...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000162861.26971.03
更新日期:2005-04-01 00:00:00
abstract::Migraine is an episodic headache disorder that occurs with or without aura and is often accompanied by other symptoms. Treatment must address these associated symptoms as well as the headache, and it can involve either acute or preventive therapy alone or a combination of both. Acute therapy treats the individual atta...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199406000-00014
更新日期:1994-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Frontotemporal dementia (FTD) is a clinically, pathologically and genetically heterogeneous disorder. Mutations in a number of genes are associated with FTD, although until recently only two [progranulin (GRN) and microtubule-associated protein tau (MAPT)] were known to be major causes of the disease....
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834cd442
更新日期:2011-12-01 00:00:00
abstract::Primary germ-cell tumors of the central nervous system are rare neoplasms that are seen primarily in the pediatric age group. Because of their frequent location in the pituitary and suprasellar regions, they present with typical neuro-ophthalmologic and neuroendocrine symptoms. Sophisticated imaging and surgical biops...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199912000-00006
更新日期:1999-12-01 00:00:00
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::This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease and of proteolipid protein in hypomyelinating disorders such as Pelizaeus-Merzbacher and spastic paraplegia. We also describe seven novel leukodystrophies. These include childhood a...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200112000-00018
更新日期:2001-12-01 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:Herein we discuss the recent literature concerning cervicogenic vertigo including vertigo associated with rotational vertebral artery syndrome, as well as whiplash and degenerative disturbances of the cervical spine. We conclude with a summary of progress regarding diagnostic methods for cervicogenic ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000161
更新日期:2015-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Parkinson's disease is the second most common neurodegenerative disorder and affects 2% of the population over the age of 60 years. Due to the increasing proportion of elderly individuals in developed countries, Parkinson's disease and related neurodegenerative disorders represent a growing burden on ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000170951.08924.3d
更新日期:2005-08-01 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::We currently conceive of a migraine attack as originating in the brain. Triggers of an attack initiate a depolarizing neuroelectric and metabolic event likened to the spreading depression of Leao. This event activates the headache and associated features of the attack by mechanisms that remain to be determined, but ap...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200006000-00007
更新日期:2000-06-01 00:00:00
abstract::Recent positron emission tomography investigations found spreading oligemia in the early phases of a human migraine attack. During the headache phase, increased cerebral blood flow was found in cortical sensory association areas and unilaterally in the brainstem. The brainstem activation persisted after complete relie...
journal_title:Current opinion in neurology
pub_type: 社论,评审
doi:10.1097/00019052-199606000-00007
更新日期:1996-06-01 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:This review discusses advances in the understanding of the mechanisms of status epilepticus and its current treatment approaches. Many of these have been topics at the 5th London-Innsbruck Colloquium on status epilepticus 2015. RECENT FINDINGS:A new definition and classification of status epilepticus...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000307
更新日期:2016-04-01 00:00:00
abstract::The review intends to draw the attention of researchers working in retinal degenerations on the fact that classical apoptosis, for example, apoptosis triggering caspase activation, may not be the main pathway of cellular demise in this tissue.Former work already showed the difficulty of proving the activation of apopt...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000272
更新日期:2016-02-01 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:Functional neuro-imaging studies of aphasic stroke offer the potential for a better understanding of the neuronal mechanisms that sustain language recovery. Conclusions, however, have been hampered by a set of unexpected challenges related to experimental design and interpretation. In this review of s...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000168081.76859.c1
更新日期:2005-08-01 00:00:00
abstract:PURPOSE OF REVIEW:A stroke mimic is a situation in which a diagnosis of stroke at admission is not confirmed, and a stroke chameleon is a situation in which a stroke is revealed by clinical symptoms that are not usual in stroke. The objective of this review is to identify the most frequent clinical situations in which ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000620
更新日期:2019-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Cervical artery dissection (CeAD) is a major cause of ischemic stroke in young and middle-aged adults, although relatively uncommon in the community. Recent large collaborative projects have provided new insights into mechanisms and risk factors of CeAD. RECENT FINDINGS:Pathologic changes observed at...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000056
更新日期:2014-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The results of phase 2 randomized controlled trials for the prevention of episodic and chronic migraine demonstrating the efficacy and safety of four mAbs targeting the calcitonin gene-related peptide (CGRP) pathway [ALD403 (eptinezumab), AMG334 (erenumab), LY2951742 (galcanezumab) and TEV48125 (frema...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000438
更新日期:2017-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim of this study was to assess the seizure manifestations and risk of epilepsy in encephalitis associated with antibodies against neuronal cell-surface (autoimmune encephalitis) or myelin-associated antigens, and to review several chronic epileptic disorders, including Rasmussen's encephalitis, f...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000449
更新日期:2017-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The diagnosis of dementia rests on an improved knowledge and a better detection of early impairments, to which functional imaging can certainly contribute. RECENT FINDINGS:Progress has been observed at different levels. First, the understanding of different dementias has benefited from explorations o...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200208000-00006
更新日期:2002-08-01 00:00:00
abstract:PURPOSE OF REVIEW:To review the most relevant developments in the understanding of headache in idiopathic intracranial hypertension (IIH). RECENT FINDINGS:The phenotype of the typical IIH headache is diverging from the historical thinking of a raised intracranial pressure headache, with the majority being classified a...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000651
更新日期:2019-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The relative influence of genes and environment on the liability to neurodevelopmental disorders (NDDs) can be investigated using a twin design. This review highlights the results of the most recent twin studies of NDDs. RECENT FINDINGS:Recent twin studies have confirmed that NDDs show moderate-to-hi...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32835f19c3
更新日期:2013-04-01 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