Abstract：
INTRODUCTION:The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the passage of electrically charged ions from one side of it to the other, thanks to the electrochemical gradient. A channelopathy is a disorder due to anomalous function of the ionic channels. DEVELOPMENT:In this study we analyze particularly the hereditary channelopathies with neuromuscular involvement non dystrophic myotonia, paramyotonias and periodic paralysis, and classify the clinical, physiopathological, molecular, genetic and therapeutic aspects. As far as possible we have divided the different conditions according to the channel involved, due to mutations which affect the sodium, calcium, chloride and potassium channels. We have also included neuromyotonic phenomena which are probably caused by channelopathies. CONCLUSIONS:Probably it will not be long before many of the conditions considered in this article have a better physiopathological explanation, more specific diagnostic procedures and a more rational approach to treatment.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Ruggieri VL,Arberas CLsubject
Has Abstractpub_date
2002-01-16 00:00:00pages
150-6issue
2eissn
0210-0010issn
1576-6578pii
rn2001264journal_volume
34pub_type
杂志文章abstract：INTRODUCTION:Glutaric aciduria type I is an autosomal recessive inborn error of metabolism that is due to a deficiency of the enzyme glutaryl-CoA dehydrogenase, which gives rise to an accumulation of glutaric and 3-hydroxyglutaric acids in biological fluids. Clinical features present as a sudden-onset severe neurologic...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-05-16 00:00:00
abstract：OBJECTIVES:The published data on neurological resources and the demand for neurological care in Spain were reviewed. Also, this demand was analysed in a specific health district (area 11, Hospital Universitario 12 de Octubre, Madrid). DEVELOPMENT:About 2.5 neurologists per 100,000 inhabitants in Spain was estimated to...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-10-01 00:00:00
abstract：INTRODUCTION AND OBJECTIVE:The chronic inflammatory demyelinating polyneuropathy (CIDP) is a controversial sickness. No doubt it is still a diagnosis without a strict nosologic delimitation until we acquire a greater knowledge about the underlying mechanisms, or whether a specific marker is found. We evaluated its clin...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-04-16 00:00:00
abstract：INTRODUCTION:There is currently a growing interest for conducting studies into the electrical and neurochemical activity of the pedunculopontine nucleus (PPN) due to the privileged position occupied by this structure in the flow of information to and from the cortex. This nucleus acts as a relay, not only for the motor...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-06-16 00:00:00
abstract：INTRODUCTION:Studies on focal dystonia showed that the formulations of botulinum toxin type A, incobotulinumtoxin-A (Inco-BTA) and onabotulinumtoxin-A (Ona-BTA), have equivalent efficacy and safety. AIM:To carry-out a cost-utility analysis of Inco-BTA administered on flexible intervals vs. Ona-BTA on a fixed interval,...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2018-12-16 00:00:00
abstract：INTRODUCTION AND OBJECTIVE:It is well known that in aged animals cognitive deficit occurs, homologous with that occurring in Alzheimer's disease in humans, and as has been shown in others species, this may be attenuated by administration of nerve growth factor (NGF). Therefore the basic aim of this study was to make an...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-04-01 00:00:00
abstract：INTRODUCTION:As result of our aim to improve the quality standard of our emergency system, work has been carried out in relation to the development and monitorization of effective clinical protocols in the department of paediatric practice. PATIENTS AND METHODS:An evidence based review approach was taken to design a c...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-08-16 00:00:00
abstract：INTRODUCTION:Overweight and obesity present significant public health concerns because of the link with numerous chronic health conditions. During the last ten years, since the discovery of leptin, great advances were obtained in the characterization oh the hypothalamic mechanisms involved in the control of food intake...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2007-12-01 00:00:00
abstract：INTRODUCTION:Hypertrophic pachymeningitis is an infrequent disease that is characterised by inflammatory hypertrophy of the dura mater. There are cranial, spinal and craniospinal forms of the disease. They may be due to underlying infectious, autoimmune or neoplastic processes, although most of the cases reported in re...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-10-16 00:00:00
abstract：INTRODUCTION:The theory of memory consolidation, based on the work published by Georg Elias Muller and Alfons Pilzecker over a century ago, continues to guide research into the neurobiology of memory, either directly or indirectly. In their classic monographic work, they concluded that fixing memory requires the passag...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章,评审
doi：
更新日期：2007-09-01 00:00:00
abstract：INTRODUCTION:A perispinal block (intradural and/or epidural) is a technique which is considered to be safe under certain conditions. Nevertheless, neurological complications are possible and may be associated with transient or permanent sequelae, as is shown by symptoms ranging from minor alterations (most commonly) to...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-09-16 00:00:00
abstract：OBJECTIVE:To evaluate the therapeutic response of West's syndrome (WS) associated with cerebral paralysis (CP) secondary to periventricular leucomalacia (PVL). MATERIAL AND METHODS:We made a retrospective analysis of the clinical histories of 10 patients with SW and CP secondary to periventricular leucomalacia. We stu...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-09-01 00:00:00
abstract：AIM AND DEVELOPMENT:To debate about the application of on-going 'revolutions' in medical knowledge to Spanish neurological journals in the 21st century. This article reviews the current status of five revolutions in the field of health sciences, in general, and in neurological sciences, in particular: 1) the knowledge ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2007-01-16 00:00:00
abstract：INTRODUCTION:The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. CASE REPORT:We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2015-05-16 00:00:00
abstract：INTRODUCTION:The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) wi...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2018-04-16 00:00:00
abstract：INTRODUCTION:Orthostatic tremor is a rare kind of tremor which is clinically characterised by a feeling of instability or being about to fall that is experienced on standing up, which disappears or improves on walking and is absent when sitting or lying down. AIM:To shed light on the main features of this tremor syndr...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-04-01 00:00:00
abstract：INTRODUCTION:The direct application of different types of cells to the central nervous system (CNS) by means of transplants, so-called cell therapy, is an experimental approach that promotes the characterisation of the cell and molecular mechanisms involved in the development, plasticity and regeneration of damage to t...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2009-11-01 00:00:00
abstract：INTRODUCTION:Myasthenia gravis is an autoimmune disease of the neuromuscular junction that presents clinically as fluctuating weakness of skeletal muscles, as of the ocular region (myasthenia ocular). AIM:To demonstrate that the sensitivity and specificity of the ice pack test are high, in the differential diagnosis o...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2013-11-01 00:00:00
abstract：INTRODUCTION:The spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province, which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exon of disease causing gene, and it is characterized by a high variability in its...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-12-16 00:00:00
abstract：INTRODUCTION:Vascular lesions produced as a consequence of surgical spinal treatment are rare, but serious. Fast diagnosis and treatment are essential in lesions that produce massive blood loss. Following the use of non covered stents in the treatment of peripheral vascular stenotic obstructive pathologies, the appeara...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-06-16 00:00:00
abstract：AIMS:In this study we review the economic impact involved in suffering from this disease in an attempt to determine how it affects both the individual and society, and the potential benefits deriving from its prevention and treatment. DEVELOPMENT:The World Health Organisation and the World Bank have pointed out that 9...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-09-01 00:00:00
abstract：INTRODUCTION:Essential thrombocythemia (ET) is a myelodysplastic syndrome that constitutes an infrequent cause of ischemic stroke. Few clinical reports have been published describing the clinical onset of ET in the form of a vascular accident. CASE REPORT:We describe four cases of patients with no known haematological...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-06-01 00:00:00
abstract：TITLE:42.ª Reunion de la Sociedad de Neurofisiologia Clinica de las Comunidades de Valencia y Murcia. Comunicaciones. : ...
journal_title：Revista de neurologia
pub_type：
doi：
更新日期：2017-12-01 00:00:00
abstract：:In the last years there is an increasing interest in the knowledge of vascular status in patients with acute stroke. Detection and localization of an artery occlusion is of great interest for an accurate prognosis and the selection of the most appropriate recanalizing therapy. Neurosonology is a useful diagnostic tool...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2013-01-01 00:00:00
abstract：OBJECTIVES:To review current literature on population, cytogenetic and molecular studies of specific language disorders (SLD) and pervasive developmental disorders (PDD). DEVELOPMENT:Clinical concordance studies in twins and in vertical familial groups suggest polygenic multifactorial modes of inheritance, but in some...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-07-01 00:00:00
abstract：INTRODUCTION:In neuropathic pain, as occurs in epilepsy, researchers are striving to find a drug capable of inhibiting the pain-generating ectopic discharges that are produced as a result of neuronal hyperexcitability. This is mediated by ionic exchanges across the channels of the synaptic membrane. This is why the dru...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2007-10-01 00:00:00
abstract：INTRODUCTION:Fingolimod is a selective immunosuppressant that targets the S1P receptor, and is indicated in the treatment of aggressive relapsing-remitting multiple sclerosis (RRMS) and following treatment failure with first-order drugs. AIM:To investigate the safety and effectiveness of fingolimod under the condition...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2017-05-16 00:00:00
abstract：:The association of unilateral ptosis and contralateral palpebral retraction named as "palpebral plus-minus syndrome" by Gaynard et al is an infrequent finding. Most cases described are of peripheral origin and secondary to muscle pathology or neuromuscular union. Cases secondary to central lesions are exceptional. We ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:Autism spectrum disorder (autism) is a highly prevalent and heterogeneous family of neurodevelopmental disorders of genetic origins with potentially devastating implications for child, family, health and educational systems. Despite advances in paper-and-pencil screening and in standardization of diagnostic procedures...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2015-02-25 00:00:00
abstract：AIM:To analyse the data and concepts that have been produced in relation to one of the functions that have been suggested for sleep, namely, neuronal recovery. DEVELOPMENT:Sleep is a state of consciousness that is different to that of arousal. Mammals devote an important part of their lives to sleeping; for example, a...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-10-01 00:00:00
