Abstract:
PURPOSE OF REVIEW:The recent identification of mutations in five genes coding for proteins with putative or demonstrated glycosyltransferase activity has shed light on a novel mechanism responsible for muscular dystrophy. Abnormal glycosylation of alpha-dystroglycan appears to be a common finding in all these conditions. Surprisingly, the disease severity due to mutations in several of these genes is extremely variable. This article provides an overview of the clinical, biochemical and genetic advances that have been made over the last year in this field. RECENT FINDINGS:Mutations in the human LARGE gene, a putative glycosyltransferase mutated in the myodystrophy mouse, have now been identified in a form of human muscular dystrophy. In addition, the clinical variability of patients with mutations in the genes encoding fukutin, protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 and the fukutin-related protein has been significantly expanded. Disease severity in patients with mutations in the gene encoding the fukutin-related protein varies from a severe prenatal form of congenital muscular dystrophy with cobblestone lissencephaly and structural eye defects to a mild form of limb-girdle muscular dystrophy with onset in adult life and neither brain nor eye involvement. SUMMARY:Glycosylation disorders represent a rapidly growing and common group of muscular dystrophies. Accurate genetic diagnosis can now be made for five forms, and it is anticipated that several other variants will eventually fall into these categories.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Muntoni F,Brockington M,Torelli S,Brown SCdoi
10.1097/00019052-200404000-00020subject
Has Abstractpub_date
2004-04-01 00:00:00pages
205-9issue
2eissn
1350-7540issn
1473-6551pii
00019052-200404000-00020journal_volume
17pub_type
杂志文章,评审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::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::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::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:To give an overview on topics of pupillary function selected according to their relevance in clinical neurology. Mainly publications of the last 3 years have been considered. RECENT FINDINGS:The discovery of photosensitive retinal ganglion cells not serving vision, but serving circadian rhythm and th...
journal_title:Current opinion in neurology
pub_type: 杂志文章
doi:10.1097/WCO.0b013e3282f39173
更新日期:2008-02-01 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 demyelinating disease multiple sclerosis has an autoimmune inflammatory component, which has dominated the description of multiple sclerosis. A degenerative component to multiple sclerosis was always apparent, but was underappreciated until recently. Recent work has brought axonal pathology and br...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000073925.19076.f2
更新日期:2003-06-01 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: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::A long series of studies beginning with the pioneering experiments of Wiesel and Hubel [1] has shown that correct visual experience is crucial for the development of the visual system. Recent results suggest that neurotrophic factors of the nerve growth factor family might have a relevant role in mediating the effects...
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:Multiple sclerosis (MS) is an autoimmune and inflammatory disease of the central nervous system (CNS) that causes neurological disability in young adults and that to date has no cure. Until now, expensive and only partially efficacious therapies have become available. For this reason, researchers, cli...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32833960f6
更新日期:2010-06-01 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: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: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:Medulloblastoma is no more a unique disease. Clinical and biologic classification used so far are challenged by molecular classification(s). Following the consensus article that described four molecular groups of medulloblastoma in 2012, several articles in 2017 provided more relevant classifications ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000626
更新日期:2018-12-01 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:This review discusses recent studies on myasthenia gravis with onset in childhood (juvenile myasthenia gravis) and neonatal myasthenia gravis. RECENT FINDINGS:The occurrence of myasthenia gravis in childhood is strongly influenced by genetic and environmental factors. Juvenile myasthenia gravis is as...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32833c32af
更新日期:2010-10-01 00:00:00
abstract:PURPOSE OF REVIEW:To give an overview of recent data on the use of skin biopsy as a diagnostic tool in neuropathies. RECENT FINDINGS:The sensitivity and specificity of skin biopsy in detecting small fiber neuropathy is supported by new data. In many patients with small fiber neuropathy, a treatable disorder can be ide...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328309000c
更新日期:2008-10-01 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: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:The diagnosis of amyotrophic lateral sclerosis (ALS) still relies mainly on clinical criteria. In present review we will provide an overview of neurochemical ALS biomarkers, which are in the most advanced position on the way towards inclusion into the clinical work-up. RECENT FINDINGS:The field of AL...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000744
更新日期:2019-10-01 00:00:00
abstract:PURPOSE OF REVIEW:This review provides an overview of recent developments in diagnosis, pathophysiology, neuroimaging and management of functional (psychogenic) movement disorders (FMD). RECENT FINDINGS:There has been increasing interest to study the underlying pathophysiology of FMD, which has resulted in a broadened...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3283551bc1
更新日期:2012-08-01 00:00:00
abstract::Dermatomyositis and polymyositis are treatable disorders of skeletal muscle. Despite their clinical similarities, they appear to have fundamentally different autoimmune origins. Inclusion body myositis, from its origins 30 years ago, has emerged as the commonest acquired myopathy of the elderly. Despite inflammatory c...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200110000-00007
更新日期:2001-10-01 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::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::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:This review seeks to describe recent advances in the epidemiology, outcomes, and prognostic factors in acute encephalitis. RECENT FINDINGS:Infectious causes continue to account for the largest proportion of encephalitis cases in which a cause is identified, although autoimmune causes are increasingly...
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
abstract:PURPOSE OF REVIEW:Stroke thrombolysis is in the process of moving from academic centers into community-based standard therapy in experienced centers. Recently published data on patient selection, imaging and other technical or organizational advances are reviewed in order to improve the safety and efficacy of stroke th...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000053584.70044.65
更新日期:2003-02-01 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