Abstract：
AIM:The aim is to review the molecular and genetic aspects of the dystrophic and no dystrophic myotonias. BACKGROUND:Myotonic diseases are hereditary conditions of the skeletal muscle, classified in two groups depending on the symptoms. In the first group are the myotonic dystrophies, with the myotonic dystrophies type 1 and 2. In the second group are the channelopathies, characterized for the affected function of the ion channels. Myotonic dystrophy type 1, a neurodegenerative, progressive and disabling disease is caused by an expansion of the CTG trinucleotide, its size shows a positive correlation with the severity and negative with age of onset. There are enough insights to think that the gain of function of the mutant ARN is the pathophysiological mechanism occurring on this disease. Myotonic dystrophy type 2, less severe than type 1, is caused by an expansion of the CCTG tetranucleotide, its pathophysiological mechanism is similar to that one proposed for the type 1. In the second group we can find the chloride channelopathies, with autosomal dominant or recessive inheritance, caused by one of the 60 different mutations on the chloride channel gene; and the sodium channelopathies, group of three clinically overlapping diseases, with dominant heredity caused by one of the 25 different mutations on the sodium channel gene. CONCLUSIONS:These diseases are highly clinically variable, and even though their genetic base is known, it is necessary too much research in order to understand their pathophisiology and the phenotype genotype relationships.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Morales Montero F,Cuenca Berger Psubject
Has Abstractpub_date
2004-04-01 00:00:00pages
668-74issue
7eissn
0210-0010issn
1576-6578pii
rn2003483journal_volume
38pub_type
杂志文章,评审abstract：INTRODUCTION:The value of the P300 cognitive event-related potential in the diagnosis of Alzheimer subtype neurocognitive disorders is still incipient. Recent studies suggest that combining it with neuropsychological tests by cognitive domains would allow an objective and early characterisation of the cognitive impairm...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7101.2019341
更新日期：2020-07-01 00:00:00
abstract：:INTRODUCTION. Dystrophinopathies are X-linked genetic disorders caused by mutations in the DMD gene. Genetic tests are of utmost importance for management and genetic counseling of these diseases. However, the complexity of the DMD gene is a challenge for diagnosis. AIM. To describe recent advances in the diagnosis of...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-02-16 00:00:00
abstract：OBJECTIVE:To show the neurological disorders associated with ocular changes mainly affecting retina and which can be seen during the first year of age. DEVELOPMENT:It is used the personal experience and the reported papers of the literature related with the subject to make a short review of the main neurological, bioc...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-01-01 00:00:00
abstract：:We present a family study of multiple cavernomatosis which affected a boy of six, his mother and two brothers. It was seen clinically as epileptic crises, focal neurological defects and frequent headaches. In our case, the condition started as a syndrome of intracranial hypertension with progressive headache and vomit...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-04-01 00:00:00
abstract：:In order to evaluate the degree of neurological knowledge in a general practitioner (GP), and given the lack of a useful instrument with which to do so, we propose the drawing up of a neurological knowledge test which would give adequate psychometric guarantees. By using a broad-based sample of professionals working i...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：INTRODUCTION:The subarachnoid haemorrhage non traumatic assumes between the 6-8% of all acute cerebrovascular, besides is more frequent in young persons. The mortility and mortality is high and the predictive factors of the worse prognostic in unknown. MATERIAL AND METHODS:In the present work, we realized a study of t...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：INTRODUCTION:Restless legs is an unpleasant sensation in the calves that occurs when the individual is sitting or laying down, with an irresistible urge to move the legs. It has been know as a cause of insomnia. We have been using various drugs with a variety of effectiveness. Levodopa is now considered the drug of cho...
journal_title：Revista de neurologia
pub_type： 临床试验,杂志文章
doi：
更新日期：1999-05-16 00:00:00
abstract：AIMS:The aim of this study was to determine whether the introduction of generic formulations of antiepileptic drugs (AED) would lead to an economic saving for the public health service. DEVELOPMENT:The narrow therapeutic index, low solubility and non-linear pharmacokinetics of some AED mean that the ranges of bioequiv...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-07-01 00:00:00
abstract：INTRODUCTION:Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2009-01-23 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：AIMS:The principal aims of this review are: (a) to offer a perspective of the principal challenges that forensic neuropsychology handles in its scientific and professional development, and the empirical advances that have been developed to deal with these challenges; and (b) analyze the potential effects of these advan...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-07-01 00:00:00
abstract：INTRODUCTION:We analysed the characteristics, progression and outcomes observed following the embolisation of 100 intracranial arteriovenous malformations (AVM) that were performed in order to achieve complete obliteration of the AVM, the elimination of associated vascular risk factors and also to reduce their size wit...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：TITLE:Epilepsia dependiente de piridoxina por deficiencia en el gen PNPO. ...
journal_title：Revista de neurologia
pub_type： 信件
doi：10.33588/rn.6907.2019084
更新日期：2019-10-01 00:00:00
abstract：AIMS:The main objective of this study is to describe the different neuropsychological deficits associated to the consumption of 3,4-methylenedioxymethamphetamine (MDMA or 'ecstasy'), as well as the growing evidence that attributes these deficits to the selective axonal damage to serotoninergic cells brought about by th...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2005-07-16 00:00:00
abstract：OBJECTIVE:To analyze the available scientific evidence regarding treatment with thrombolytic agents in patients with cerebrovascular disease and present this in the context of daily practice. DEVELOPMENT:Publication of the NINDS study of treatment with t-PA for acute cerebral ischemia led to approval of this treatment...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-12-16 00:00:00
abstract：AIMS:To evaluate the presence of epileptiform discharges and the organisation of nocturnal sleep of autistic children without nocturnal polysomnographic epileptic seizures. SUBJECTS AND METHODS:Cross section analysis. SUBJECTS:21 boys and girls with autistic spectrum using DSM IV criteria between the ages of 4 and 12...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-06-16 00:00:00
abstract：INTRODUCTION AND OBJECTIVE:Cognitive deficits following lesions in parieto occipital areas tend to cause, among others, visuospatial and visuoperceptive alterations. The aim of this article is to examine the influence of others possible deficit over its rehabilitation. DEVELOPMENT:We discuss several patients who prese...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-03-01 00:00:00
abstract：INTRODUCTION:Lesions of the pyramidal system are characterized by their effects on qualitative aspects of movement. One of the features of pyramidal defects is the presence of associated movements or synkinesis. CLINICAL CASE:We present a case with residual associated electromyographic (EMG) response in a patient who ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-06-01 00:00:00
abstract：INTRODUCTION:Synthesis of IgG is useful data for the diagnosis of multiple sclerosis, and different formulas, both direct and indirect, are used to quantify this. We analyze these formulas with the objective of finding whether certain combinations of them would give better results than the individual formulas on their ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-11-01 00:00:00
abstract：:Parkinson's disease is a neurodegenerative disorder associated with aging characterized by a motor extrapiramidal alteration secondary to the progressive death of dopaminergic neurons of the substantia nigra pars compacta. The cause of this neuronal loss remains unknown but post mortem studies on brains of parkinsonia...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-03-16 00:00:00
abstract：INTRODUCTION:Alpha interferons (IFN a) have been shown to be effective in patients with chronic active hepatitis C. IFN a treatment may be associated with neurologic complications, including peripheral neuropathy. CASE REPORT:We describe a patient with active hepatitis C treated with IFN a, who developed peripheral ne...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-10-01 00:00:00
abstract：INTRODUCTION:In the early stages of their development, children acquire the skills and knowledge that provide them with the foundations on which they will later add what they learn at school, including skills such as reading, writing and mathematics. The presence of learning difficulties at the infantile stage can affe...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-02-13 00:00:00
abstract：INTRODUCTION:Pentoxifylline (PTX) is a phosphodiesterase inhibitor which has been found in studies in vitro to inhibit the production of Th-1 cytokines. It has been postulated that it might be used as a possible coadjuvant treatment for interferon in patients with multiple sclerosis. This would also reduce the potentia...
journal_title：Revista de neurologia
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：2001-03-16 00:00:00
abstract：INTRODUCTION:In the treatment of speech disorders by means of speech therapy two antagonistic methodological approaches are applied: non-verbal ones, based on oral motor exercises (OME), and verbal ones, which are based on speech processing tasks with syllables, phonemes and words. In Spain, OME programmes are called '...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2016-01-01 00:00:00
abstract：INTRODUCTION:Neuronal ceroid lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultrastructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LI...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
abstract：INTRODUCTION:Genetic etiology in suggested in intracranial aneurysms. Such hypothesis is supported on familial aggregation, ocurrence in identical twins or associated to genetic diseases like adult polycystic renal disease. OBJECTIVE:To identify biological features in familial aneurysms different to sporadic ones. PA...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-02-01 00:00:00
abstract：:Traffic accidents (TA) are, after heart disease, cancer and stroke, the fourth death cause among the general population. Although the number of AT caused by diseases-excluding alcoholism- seems to be reduced, interaction between organic pathology and functional ability increases the importance of this problem. This pa...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1995-03-01 00:00:00
abstract：:Few studies have been conducted on children and teenagers with borderline intelligence (BI) as a collective that shares this condition. In this paper we discuss the concept of intelligence and analyse the different cognitive profiles with which BI can be expressed. We also evaluate how aspects linked to a 'g' factor o...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-02-01 00:00:00
abstract：INTRODUCTION:A large number of diseases present as bilateral striatal lesion syndrome (BSLS). Clinical manifestations, course and prognosis of these diseases are extremely variable. On the basis of their evolutive course, they can be separated into two major groups: acute, which include toxic, infectious or parainfecti...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-12-16 00:00:00
abstract：AIM:To review about novel aspects in the initial management of patients with spontaneous intracerebral hemorrhage (SICH) and to analyze a group of predictors with influence on the election of certain therapies and on the 30-day mortality. DEVELOPMENT:SICH often constitutes a critical illness. Thus, many SICH patients ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-03-16 00:00:00
