Abstract:
INTRODUCTION:Mental retardation (MR) is a clinical condition that may be due to a large variety of causes, the most important of which are those of a genetic origin, owing to the repercussions they can have on the family. There are more than one thousand types of MR with a genetic origin, and they are not usually found in isolation. Different research studies have found a relation between genetically-originated MR and the presence of mutations in genes involved in the intracellular pathway that mediates in synaptic plasticity, learning and memory. DEVELOPMENT:There are genes that alter the flow of information between the membrane and the nucleus, as is the case of genes NF1 and TSC2, and others are needed to integrate the external signal within the inside of the cell, as is the case of gene DMPK. These three genes are implicated in neurofibromatosis type 1, tuberous sclerosis and Steinert's myotonic dystrophy, respectively, which are monogenic diseases that are transmitted by autosomal dominant inheritance and appear as different forms of MR, among other clinical features. CONCLUSIONS:Further studies of these diseases and the genes responsible for them will help to improve our knowledge about MR with a genetic origin.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Sánchez-Díaz A,Morales-Peydró C,Madrigal-Bajo Isubject
Has Abstractpub_date
2006-01-07 00:00:00pages
S33-7eissn
0210-0010issn
1576-6578pii
rn2005700journal_volume
42 Suppl 1pub_type
杂志文章,评审abstract:TITLE:Analisis bibliometrico de las investigaciones españolas sobre neurorrehabilitacion en el ictus indizadas en Medline (2008-2017). : ...
journal_title:Revista de neurologia
pub_type: 信件
doi:10.33588/rn.6811.2019070
更新日期:2019-06-01 00:00:00
abstract:INTRODUCTION:Throughout the history of thought, science and philosophy have addressed the problem of mind-brain from different epistemic perspectives. The first covers specific areas of reality and constructs hypotheses with limited scope and multiple inter-scientific connectivity with the aim of validating theoretical...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2016-08-01 00:00:00
abstract:INTRODUCTION:Epileptic seizures and epilepsy are part of daily clinical practice in neurology. Yet, the number of false positive diagnoses is surprisingly high. Almost one out of every five patients treated for epilepsy does not really have this diagnosis, which is a high percentage bearing in mind the social and medic...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:10.33588/rn.6806.2018242
更新日期:2019-03-16 00:00:00
abstract::An accurate diagnosis of a mentally retarded patient is a crucial step to design a successful treatment. The effects of genetic and environmental influences have to be clarified in the etiological approach. For that reason, we have to record a more appropriate family information, detailed prenatal, birth and postnatal...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2001-10-01 00:00:00
abstract:INTRODUCTION:FOXP2 is the first gene linked to a hereditary variant of specific language impairment and seems to code for a transcriptional repressor that intervenes in the regulation of the development and the functioning of certain thalamic-cortical-striatal circuits. DEVELOPMENT:In the last three years, significant...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2008-03-16 00:00:00
abstract:INTRODUCTION:Lymphomas of the central nervous system include primary and secondary lymphomas of Hodgkin and non-Hodgkin types. For a long time central nervous system involvement during the course of systemic non-Hodgkin lymphoma has been considered unusual, to occur late on in the disease process and usually to be loca...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
abstract:INTRODUCTION:CLIPPERS syndrome (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) is an inflammatory process of the central nervous system whose distinguishing features are the enhancing punctiform lesions in the brainstem that appear in the magnetic resonance images. Clinic...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2013-10-16 00:00:00
abstract::Based on the interrelation between science and philosophy, this article addresses the impact of neurosciences on the philosophical issues posed by today's society, especially those related with epistemology and the philosophy of science. To do so, the different approaches in the cognitive sciences are taken into accou...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2013-03-16 00:00:00
abstract:INTRODUCTION AND DEVELOPMENT:The paraneoplastic neurological syndromes are alterations associated with neoplasias. However, they are not caused by metastases or complications such as infections, vascular disorders, metabolic or nutritional alterations or secondary effect of treatment. The paraneoplastic syndromes are o...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2000-12-16 00:00:00
abstract:AIMS:We review one of the most important functional techniques in magnetic resonance imaging, perfusion MRI (pMRI) with emphasis in its applications, particularly in the diagnosis and follow up of brain lesions. First, we discuss the physical principles and results of the technique, then, we discuss its major applicati...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2010-01-01 00:00:00
abstract:INTRODUCTION:Rett's syndrome (RS) is a disorder of neurological development which is the second commonest cause of mental retardation in girls. It is normally caused by de novo mutations of a gene on the X chromosome. This gene encodes for the protein joining the methyl CpG (MECP2). Mutations of this gene have been fou...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00
abstract:INTRODUCTION:Decompression sickness (DS) is caused when bubbles of an inert gas usually nitrogen, since oxygen is metabolised in the tissues are released into the bloodstream and tissues during fast ascents once the atmospheric pressure is lowered near the surface. Neurological complications are its most serious form o...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2003-06-01 00:00:00
abstract:INTRODUCTION:Latin American medicine in the 16th century produced the first collections of herbs with native plants from the New World. Treatises on popular therapies appeared, which included gallenic remedies as well as incorporating autochthonous plants. We review the main neurological diseases and their treatments d...
journal_title:Revista de neurologia
pub_type: 传,历史文章,杂志文章
doi:
更新日期:2009-08-01 00:00:00
abstract:INTRODUCTION:Neurotoxoplasmosis (NTX) is one of the commonest opportunist infections in patients infected by the human immunodeficiency virus. It presents with a variety of clinical features in the immunocompromised patient. PATIENTS AND METHODS:We made a horizontal retrospective descriptive study of 88 patients with ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2002-04-01 00:00:00
abstract:INTRODUCTION:Reduced facial expression or amimia is one of the most typical characteristics of Parkinson's disease (PD). Despite being described in classic texts, its significance, physiopathology and correlation with motor and non-motor symptoms is largely unknown. PATIENTS AND METHODS:We have studied facial bradykin...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2018-01-16 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::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:Parkinson's disease (PD) is characterized by motor symptoms such as bradykinesia, rigidity, alteration of postural reflexes and tremor at rest and other non-motor symptoms such as changes in sleep patterns and sexual behavior. However, little is known about paraphilic sexual behaviors. AIM:To summarize th...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2018-08-16 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 OBJECTIVE:We analyze the main factors influencing the time delay between onset and admission to the hospital in acute stroke. PATIENTS AND METHODS:Consecutive series of 1,344 patients with acute stroke or transient ischemic attack admitted at two reference hospitals of Valencia and included at the sam...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1998-12-01 00:00:00
abstract:INTRODUCTION:In the last years, the changes in glial cells during different alterations in the Central Nervous System have been studied. It is known that astrocytes and microglial cells are the glial cells which present the major reactivity. OBJECTIVE:The aim of this work was to analyze the glial cell changes induced ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1999-09-01 00:00:00
abstract:INTRODUCTION AND AIMS:The exploration of neurocognition in neurology departments has gone a long way from the traditional psychometric tests to the present day use of high technology methods in cognitive neurophysiology, as is the case of event related potentials. Given the increased sensitivity of these procedures, it...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2002-11-01 00:00:00
abstract:INTRODUCTION:The diagnosis and treatment of posterior plagiocephaly is one of the most controversial aspects of craniofacial surgery. PATIENTS AND METHODS:The purpose of this study is to describe a recent increase in the incidence of occipital plagiocephaly without synostosis in our hospital during the last 6 months. ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract:INTRODUCTION:Posconcussional syndrome is characterized by a heterogeneous group of somatic, cognitive and psychosocial symptoms, which occur in patients with head trauma, generally of mild severity. It is the neuropsychiatric postraumatic disorder more prevalent in the field of forensic medicine. DEVELOPMENT:Classical...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2001-05-01 00:00:00
abstract:INTRODUCTION:The hyperperfusion syndrome (HS) is described as an infrequent complication of carotid endarterectomy. It may also occur in percutaneous transluminal carotid angioplasty with a similar causal mechanism and clinical features to those seen in HS related to carotid endarterectomy. CLINICAL CASE:We describe t...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1999-11-16 00:00:00
abstract::Subcutaneous nodules and neuropsychiatric complications are the most relevant adverse effects during apomorphine infusion treatment. Subcutaneous nodules appear in almost all the patients and accurate information and training of both patient and caregiver is essential to minimise their impact on the treatment. Althoug...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract:INTRODUCTION:The thoracic outlet syndromes are clinical conditions whose true incidence is low, although they are frequently diagnosed. They are caused by compression of the brachial plexus or vascular structures due to anatomical anomalies of the cervico-axillary region. DEVELOPMENT:Two main types are seen: the neuro...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1998-07-01 00:00:00
abstract:TITLE:Signo del tridente en la neurosarcoidosis medular. : ...
journal_title:Revista de neurologia
pub_type:
doi:10.33588/rn.7005.2019180
更新日期:2020-03-01 00:00:00
abstract::The assessment of memory functions related to medial temporal lobe has become one of the most important issues on current neuropsychology. On this communication, we review the results which our research group has achieved using two functional magnetic resonance Image procedures to assess memory function: Hometown wal...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2004-02-01 00:00:00
abstract::Despite the significant reduction in mortality, ischemic stroke is the leading cause of morbidity and mortality in adults in industrialized countries. Antiplatelet therapy has reduced the risk of stroke and other vascular events. Although most commonly used treatment is aspirin, other antiplatelet drugs with different...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2011-11-01 00:00:00