Abstract：
:The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional techniques (karyotype, subtelomeric analyses, etc.). The latest protocols in the biomedical field of the genetic study of these disorders cite chromosomal microarrays as the first-line analysis, while also recommending other specific studies depending on the patient's clinical features (fragile X syndrome, PTEN mutation, etc.). In the evaluation of other neurodevelopmental disorders (attention deficit hyperactivity disorder, learning disorders, etc.), the number of genetic tests carried out is limited and conditioned by the clinical characteristics or the patient's familial or personal history. Even in these situations, there are no genetic referral or evaluation protocols. TITLE:Genetica aplicada a la practica clinica en trastornos del neurodesarrollo. :Las evidencias geneticas de los trastornos del neurodesarrollo estan ampliamente sustentadas en la literatura medica. Los avances en la genetica y la tecnologia han incrementado la rentabilidad diagnostica de los estudios actuales de un 3-5% a un 30-40% en los pacientes con discapacidad intelectual o trastornos del espectro autista. En este sentido, los estudios por microarrays cromosomicos muestran un mayor poder diagnostico que las tecnicas convencionales (cariotipo, analisis de subtelomeros…). Los protocolos mas recientes en el apartado biomedico del estudio genetico de estos trastornos situan los microarrays cromosomicos como analisis de primera linea, recomendando otros estudios especificos segun las caracteristicas clinicas del paciente (sindrome X fragil, mutacion en PTEN...). En la evaluacion de otros trastornos del neurodesarrollo (trastorno por deficit de atencion/hiperactividad, trastornos del aprendizaje...), la realizacion de pruebas geneticas esta limitada y condicionada a las caracteristicas clinicas o antecedentes familiares o personales del paciente; incluso en estas situaciones, no existen protocolos de evaluacion o derivacion genetica.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Fernández-Jaén A,Cigudosa JC,Martín Fernández-Mayoralas D,Suela J,Fernández-Perrone AL,Calleja-Pérez B,López-Martín Ssubject
Has Abstractpub_date
2014-02-24 00:00:00pages
S65-70eissn
0210-0010issn
1576-6578pii
rn2014008journal_volume
58 Suppl 1pub_type
杂志文章,评审abstract：INTRODUCTION:Devic's optic neuromyelitis is an unusual condition characterized by the association of unilateral or bilateral optic neuritis and myelitis, both of which are relapsing. Prognosis is usually poor, both for the optic nerve and for the spinal medulla which becomes cavitated. This leads to severe handicap and...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-03-01 00:00:00
abstract：:Neuroinflammation is a key process in the neuropathogenesis of AIDS virus since as a result of the aberrant activation of the chemokine receptors (CXCR4, CX3CR1 and CR5) produces proinflammatory cytokine release by infected cells, increases microglial neurotoxicity and generates lipoperoxides and reactive oxygen speci...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-01-16 00:00:00
abstract：:The established risk factors for ischemic stroke do not sufficiently explain all clinical and epidemiological features of the disease, such as the winter peak of stroke incidence, the decline of stroke during this century and the time point of cerebral ischemia. A role of infectious disease as stroke risk factor may p...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-11-01 00:00:00
abstract：INTRODUCTION:Numerous drugs have been related to exacerbation of myasthenia gravis. So far there are no studies examining the extent of use of drugs related to exacerbation of myasthenia gravis. AIMS:We sought to assess the extent of use of drugs related to exacerbations and the annual incidence rate of exacerbations ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7104.2020198
更新日期：2020-08-16 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：: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：: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：OBJECTIVES:To test the clinical nature and diversity of specific language impairment (SLI) in Spanish individuals, in the framework of the neuropsycholinguistic model of Chevrie-Muller and the classification of Rapin and Allen. PATIENTS AND METHODS:Forty two language impaired children with normal intelligence and audi...
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:In this study the authors analyse, clinically, dysphemia (DP) and acquired stuttering (AS). AIMS. The aim of this study was to evaluate whether AS is a variant of DP or whether it is an entity that shares a common element: stuttered speech. PATIENTS AND METHODS:The authors studied 13 patients with AS and ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-05-16 00:00:00
abstract：:Sleep homeostasis occurs during prolonged wakefulness. Drowsiness and sleep pressure are its behavioral manifestations and, when sleep is allowed, there is a sleep rebound of sufficient duration and intensity to compensate for the previous deprivation. Adenosine is one of the molecules involved in sleep homeostasic re...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-10-01 00:00:00
abstract：INTRODUCTION:Nonconvulsive status epilepticus (NCSE) of frontal origin is a form of partial status epilepticus which has rarely been well-documented. The inespecificity of the symptoms contribute frequently to its misinterpretation being the EEG the most useful tool to make an accurate diagnosis. CLINICAL CASE:We repo...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-06-01 00:00:00
abstract：INTRODUCTION:We describe a series of 10 children with intracranial hypertension complicating fulminant hepatic failure submitted to intracranial pressure (ICP) monitoring for intensive care and transplantation management. PATIENTS AND METHODS:Information from pediatrics patients acute liver failure admitted to our hos...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-02-01 00:00:00
abstract：:The aim of our study was to compare a group of over 70 year-old patients suffering from spontaneous intracerebral haemorrhage with a similarly affected group under 70 years of age. With this in mind we carried out a prospective study of all patients admitted to the Neurology Service at the Virgen de la Arrixaca Hospit...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-02-01 00:00:00
abstract：INTRODUCTION:Hirayama disease is a rare children's muscular atrophy that affects young Asian males, with muscular atrophy usually in one of the upper limbs that progresses slowly and later stabilises. It is diagnosed by means of electromyographic/electroneurographic with conduction speed studies (EMG/ENG-CS) and by mag...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2015-04-01 00:00:00
abstract：INTRODUCTION:Virtual reality allows the user to interact with elements within a simulated scene. In recent times we have been witness to the introduction of virtual reality-based devices as one of the most significant novelties in neurorehabilitation. AIM:To review the clinical applications of the developments based o...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2010-10-16 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:Deep brain stimulation (DBS) is a surgical technique based on the placement of a programmable electrode into certain areas of central nervous system. DBS is nowadays a well established treatment for patients with Parkinson's disease (PD) and motor complications. However, there are controver...
journal_title：Revista de neurologia
pub_type： 共识发展会议,杂志文章,实务指引
doi：
更新日期：2009-09-16 00:00:00
abstract：INTRODUCTION:Sleep and epilepsy have strong reciprocal influences and this is true for all kinds of epilepsies. The interictal paroxysmal activity increases in slow wave sleep and the localization of the primary epileptogenic area is more reliable in paradoxical sleep. DEVELOPMENT:From a practical point of view, an al...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-01-16 00:00:00
abstract：OBJECTIVE:In this paper we review the main aetiologies of metabolic origin which cause epilepsy in children aged between 1 and 10 years. DEVELOPMENT:There are many aetiological causes of convulsive seizures. Seizures and epilepsies due to congenital errors of metabolism are a minority but should be known. Their identi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-09-01 00:00:00
abstract：INTRODUCTION:Primary peptidergic sensory neurons of the trigeminal ganglion that innervate the cerebral dura have been involved in the pathogenesis of headache, including the migraine. In addition, it is known that nociceptive central processes of the trigeminal neurons terminate in the caudal trigeminal nucleus. Moreo...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-04-16 00:00:00
abstract：INTRODUCTION:The Amyotrophic Lateral Sclerosis (ALS) is a disease characterized by the selective degeneracy of the superior motoneurons of the cortex motor and of the inferior motoneurons at level of the encephalic trunk and spinal marrow. Exist sporadic and familiar forms, being estimated an incidence of 1-2 cases by ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-12-01 00:00:00
abstract：INTRODUCTION:There is increasing evidence that B cells and humoral immunity play key roles in the pathogenesis of multiple sclerosis (MS). Ocrelizumab, an anti-CD20 monoclonal antibody, has been shown to be effective in controlling the disease and has recently been aproved by the Food and Drug Administration for the tr...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2018-01-01 00:00:00
abstract：:It was recently suggested that lacunar strokes presenting with headache may be due to large intracranial artery disease. From the stroke database of the Neurology department, Hospital Sta Maria, we retrieved all lacunar strokes who had investigations of the intracranial circulation. Forty seven of the 208 lacunar stro...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1995-07-01 00:00:00
abstract：OBJECTIVES:To review current knowledge regarding the mechanisms of action, pharmacokinetics, clinical efficacy and the tolerance of topirimate (TPM) and describe the Spanish experience of the use of this drug in 224 patients of all ages. DEVELOPMENT:TPM is a new drug which affects practically all the mechanisms involv...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2000-06-01 00:00:00
abstract：INTRODUCTION:Headaches are a frequent cause of children's visits to different health care services but the epidemiological profile varies widely according to whether the sample is taken from among visits to hospital clinics, neuropaediatric units or emergency services. AIMS:The aim of this study was to analyse the aet...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-08-01 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：INTRODUCTION:Significant progress in the understanding of the molecular genetics and pathophysiology of inherited neuropathies has been achieved during the last years. DEVELOPMENT:The causative genetic defects of most of the demyelinating forms are known and different chromosomal loci have been identified for the rare...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-01-16 00:00:00
abstract：INTRODUCTION AND OBJECTIVE:The objective of the study was to analyze the EEG tracings during the seizures of two monozygotic twins, shown on molecular analysis, diagnosed as having infantile epilepsy with absences. The recordings are particularly interesting since the genotypes of the patients are identical. This allow...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-12-16 00:00:00
abstract：INTRODUCTION:Subacute sclerosing panencephalitis (SSPE) is a chronic neurodegenerative disease secondary to an infection of the central nervous system by the measles virus, with no effective treatment. The introduction of therapy with intraventricular interferon alpha (IFN-alpha) and its later association with ribaviri...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2006-03-01 00:00:00
abstract：:We report a 25-year-old woman with gradual loss of visual acuteness, during puerperium and blindness in fifteen days. Two months latter she remain steady. Visual evoked potentials using monocular checkerboard pattern-reversal, were abnormal. Clinical suspicion of voluntary alteration of VEP was considered. A second VE...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-03-01 00:00:00
abstract：:Epilepsy is a neurological disorder that affects 1-2% of the population. Despite the available treatments (drug therapy, resective surgery, vagus nerve stimulation), there is a significant subgroup of patients that continues to have disabling seizures. The indications of deep brain stimulation are exponentially growin...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-07-16 00:00:00
