Abstract:
PURPOSE OF REVIEW:The search for a cure for Duchenne muscular dystrophy and other muscular dystrophies is progressing rapidly despite significant challenges posed by some genes and the complexity of targeting all skeletal muscles. This review focuses on three areas in which experimental clinical studies are in progress. RECENT FINDINGS:Two Phase I/IIa gene-therapy trials using adeno-associated viral vectors have recently started, one in limb-girdle muscular dystrophy and one in Duchenne muscular dystrophy. They will assess the safety of the intramuscular administration of the relevant adeno-associated viral vectors, and local efficacy. Two more Phase I/IIa studies are underway in Duchenne muscular dystrophy, focused on the intramuscular administration of antisense oligonucleotides to induce exon skipping. A third study is evaluating efficacy and tolerability of a drug which induces read-through of stop codons in Duchenne muscular dystrophy patients carrying nonsense mutations. SUMMARY:These studies should provide proof of principle of these experimental approaches in humans. It is likely that further refinement will be required before extending their use to the wider community of patients with muscular dystrophy. In the meantime it is important to prepare accurate registries of molecularly characterized patients to facilitate their recruitment in future studies.
journal_name
Curr Opin Neuroljournal_title
Current opinion in neurologyauthors
Muntoni F,Wells Ddoi
10.1097/WCO.0b013e3282efc157subject
Has Abstractpub_date
2007-10-01 00:00:00pages
590-4issue
5eissn
1350-7540issn
1473-6551pii
00019052-200710000-00014journal_volume
20pub_type
杂志文章,评审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
abstract:PURPOSE OF REVIEW:Although cluster headache has traditionally been thought of as a vascular headache disorder, its periodicity suggests an involvement of central areas such as the hypothalamus. This review covers the past 3 years, which have seen remarkable progress in understanding the pathophysiology of circadian hea...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000073934.19076.0e
更新日期:2003-06-01 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:
更新日期:1995-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Drug resistance is an important clinical problem: it is associated with higher rates of somatic and psychiatric comorbidities and cognitive/memory decline, with seizures being just the 'tip of the iceberg'. This review summarizes recent developments in imaging research, focusing specifically on the fu...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000072
更新日期:2014-04-01 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::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: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:The aim is to review recent publications on amyotrophic lateral sclerosis (ALS). RECENT FINDINGS:The Awaji recommendations for electrophysiological diagnosis will permit earlier clinical trials entry. The use of ultrasound to visualize fasciculations, even in deep muscles, will contribute to earlier ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834916a9
更新日期:2011-10-01 00:00:00
abstract:PURPOSE OF REVIEW:This review summarizes key findings of the current literature on functional neuroimaging in migraine and describes how these studies have changed our view of the disorder. RECENT FINDINGS:Recent studies have started not only to investigate the global cerebral activation pattern during migraine attack...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3283532ca3
更新日期:2012-06-01 00:00:00
abstract:PURPOSE OF REVIEW:This is an update on skeletal muscle sodium channelopathies since knowledge in the field have dramatically increased in the past years. RECENT FINDING:The relationship between two phenotypes and SCN4A has been confirmed with additional cases that remain extremely rare: severe neonatal episodic laryng...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000238
更新日期:2015-10-01 00:00:00
abstract:PURPOSE OF REVIEW:This review examines the applicability of a framework of frontal lobe functioning to understand the sequelae of traumatic brain injury (TBI). RECENT FINDINGS:TBI research illustrates the need for improved phenotyping of TBI outcome. The functions of the frontal lobes are divisible into four distinct ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e32834c7eb9
更新日期:2011-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Health-related quality of life is a new outcome variable in neurology. Several generic measures aim at assessing this variable in adults with neurological diseases. Disease-specific measures are still rare; however, individuals with neurological diseases frequently suffer from cognitive impairment, ye...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000194140.56429.75
更新日期:2005-12-01 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::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::The population of pediatric patients with cerebrovascular disease presents a unique set of challenges to the neurosurgeon. The wide scope of pathology, including arteriovenous malformations, cavernous malformations and moyamoya disease, coupled with marked advances in diagnosis and treatment of these conditions over t...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200204000-00007
更新日期:2002-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Treatment response of brain tumours is typically evaluated with gadolinium-enhanced MRI using the Macdonald criteria. These criteria depend on changes in the area of enhancement. However, gadolinium enhancement of brain tumours primarily reflects impairment of the blood-brain barrier. RECENT FINDINGS...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328332363e
更新日期:2009-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review highlights recent work using advanced imaging approaches that have improved our understanding of the underlying neural mechanisms associated with disrupted brain development or demonstrated the potential of MRI to provide objective biomarkers of cerebral injury that relate to subsequent ne...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000073
更新日期:2014-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Recent terminations of clinical trials of myostatin inhibitors in muscular dystrophy have raised questions about the predictiveness of mouse models for this therapeutic strategy. RECENT FINDINGS:A variety of myostatin inhibitors have been developed for preclinical and clinical studies. These inhibito...
journal_title:Current opinion in neurology
pub_type: 杂志文章
doi:10.1097/WCO.0000000000000853
更新日期:2020-10-01 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::In the past few years evidence that atherosclerotic disease of the aortic arch is probably an underestimate source of emboli, particularly moving thrombi in the lumen, has accumulated. Pathological studies, and more recently transesophageal echocardiographic studies, have shown that atherosclerotic disease of the aort...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199702000-00013
更新日期:1997-02-01 00:00:00
abstract:PURPOSE OF REVIEW:New insights into the psychophysiological determinants of performance changes and brain plasticity associated with motor sequence learning have recently been gained through behavioral and imaging studies in healthy individuals. In addition, using a variety of motor sequential paradigms in groups of pa...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e328304b6a3
更新日期:2008-08-01 00:00:00
abstract:PURPOSE OF REVIEW:This review will discuss aspects of cytokine networks in neuroinflammatory diseases and attempt to provide some explanation for our failures and successes in translating preclinical data to benefit patients with multiple sclerosis (MS). We will discuss innate cytokines such as tumor necrosis factor al...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0b013e3283391feb
更新日期:2010-06-01 00:00:00
abstract::There is a spectrum of acute autonomic neuropathies. Acute panautonomic neuropathy (pandysautonomia), characterized by severe widespread sympathetic and parasympathetic failure, is at one extreme. Guillain-Barré syndrome is at the other end of the spectrum, where the brunt of the disorder falls on the somatic nervous ...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-199410000-00007
更新日期:1994-10-01 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::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:PURPOSE OF REVIEW:The computational power of the brain arises from the complex interactions between neurons. One straightforward method to quantify the strength of neuronal interactions is by measuring correlation and coherence. Efforts to measure correlation have been advancing rapidly of late, spurred by the developm...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/WCO.0000000000000512
更新日期:2018-02-01 00:00:00
abstract::At the dawning of the present decade, deemed appropriately the Decade of the Spine, acute spinal cord injury lingers as a formidable disorder affecting society. The enormous physical, emotional and socioeconomic impact of acute spinal cord injury on society is well known. Consequently, intensive clinical and laborator...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/01.wco.0000044768.39452.5b
更新日期:2002-12-01 00:00:00
abstract::Trauma to the developing brain constitutes an unexplored field. The few studies attempting to model and study paediatric head trauma, the leading cause of death and disability in the paediatric population, have revealed interesting aspects and potential targets for future research. One feature unique to the developing...
journal_title:Current opinion in neurology
pub_type: 杂志文章,评审
doi:10.1097/00019052-200004000-00005
更新日期:2000-04-01 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: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