Abstract：
INTRODUCTION:Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations. DEVELOPMENT:This paper will review our knowledge of the regulation of FMR1 gene expression and the genotype-phenotype relationships. The clinical variability is related to several factors including: 1) molecular variations at FMR1 leading to a range of FMRP levels, 2) the combined effect of background genes interacting directly or indirectly with FMRP, 3) environmental factors which can either enhance or impede development and the degree of dysfunction which ensues. CONCLUSION:Advances in neuroimaging, neurosciences, and knockout mice further our understanding of the gene-brain-behavior relationships in Fragile X Syndrome.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Hagerman RJ,Hagerman PJsubject
Has Abstractpub_date
2001-10-01 00:00:00pages
S51-7eissn
0210-0010issn
1576-6578pii
rn2001352journal_volume
33 Suppl 1pub_type
杂志文章,评审abstract：INTRODUCTION:Vestibular evoked myogenic potential (VEMP) elicited by acoustic stimulation, has been proposed in the assessment of vestibulospinal pathways. AIM:To research the clinical utility of VEMP on multiple sclerosis (MS). SUBJECTS AND METHODS:Forty-four individuals were evaluated (30 normal state and 14 had MS...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-03-16 00:00:00
abstract：INTRODUCTION:Optic neuritis is rare in childhood. Frequently (35-52% of all cases depending on the series) they have, during their clinical course, foci of demyelination leading to the clinical picture of multiple sclerosis (MS). Since 1993, the optic neuritis study group has recommended treatment with high doses of co...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-05-01 00:00:00
abstract：INTRODUCTION:Self-awareness impairment is a common symptom of patients after suffering acquired brain injury, affecting the rehabilitation process and achievements in terms of patients's daily living functionality. PATIENTS AND METHODS:A systematic review was performed using Scopus and PubMed databases of scientific a...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7001.2019313
更新日期：2020-01-01 00:00:00
abstract：INTRODUCTION:In recent years, the non-motor symptoms of Parkinson's disease, including those of a psychiatric nature, have been receiving greater attention from the scientific community. DEVELOPMENT:In this paper we analyse the pathophysiological bases underlying the different psychiatric symptoms, examining the dopam...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-10-01 00:00:00
abstract：INTRODUCTION:Unilateral isolated paralysis of the soft palate is a rare clinical entity. CASE REPORT:We describe the case of a 12 year old girl who presented acute dysphagia, a nasal voice and regurgitation of liquids into the nose. Exploration revealed right velopalatine insufficiency with normal gag reflex and phary...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-02-15 00:00:00
abstract：INTRODUCTION:Critical illness patients may show marked weakness acquired in the Intensive Care Unit (ICU). There are some disagreements about the myopathic versus neuropathic damage in this condition, presumably due to the lack of reliable diagnostic criteria. AIMS:To report the neurophysiological findings in critical...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2010-06-16 00:00:00
abstract：:In this study we approach problems related to the dosage and specific action of methylphenidate, its effects at cognitive and social levels, possible side-effects and limitations to its usage, and methods for evaluation of the response to treatment in the school environment. We make special mention of the importance o...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-02-01 00:00:00
abstract：INTRODUCTION:In the evaluation of stenoses of the extracranial internal carotid artery (ICA), there are studies that suggest that magnetic resonance angiography (MRA) can be a substitute for conventional arteriography (CA), although it seems it has a tendency to overestimate the degree of stenosis. No similar compariso...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-10-16 00:00:00
abstract：:The amygdala is related with the recognition of the emotional meaning of stimuli, long-term memory, the orientation of social stimuli and the perception of gaze orientation. It plays a fundamental role in the recognition of faces, especially those expressing fear, and makes it possible to comprehend different emotiona...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2014-02-24 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：:At the present time the so-called parallel or next generation sequencing (NGS) technique is rapidly expanding and developing; this process establishes a jump by several orders of magnitude in the length of the fragments sequenced and the speed with which this sequencing is carried out. NGS allows a whole human genome ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-06-01 00:00:00
abstract：INTRODUCTION AND MATERIAL:Nine brains belonging to early onset Alzheimer disease (E280A-PS1 mutation) affected individuals from Antioquia, Colombia, were analyzed by neuropathological standard techniques. All individuals were ascertained from genealogies descendents from a common ancestor that shows a dominant autosomi...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-07-01 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: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:In Parkinson's disease there are patients with isolated and multiple cognitive impairment, and their cognitive performance ranges from normal to an advanced degree of dementia. Most patients present an executive deficit, either in isolation or combined with other cognitive disorders, which is considered to...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2010-02-08 00:00:00
abstract：TITLE:Sindrome de Wolf-Hirschhorn: simple omision al citar? Replica. ...
journal_title：Revista de neurologia
pub_type： 评论,信件
doi：
更新日期：2017-09-01 00:00:00
abstract：:Alcohol intake is facilitated by its relationship with eating behavior and both processes are highly influenced by situations of stress and anxiety. The dysregulation of these processes can reach pathological situations such as anorexia, bulimia or obesity. The neurobiological elements which underlie this control are ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2018-09-01 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:Parkinson's disease (PD) is a common neurodegenerative disease which begins in adulthood. Its incidence in Mexico is estimated to be 40-50 cases per 100,000 inhabitants/year and is the fourth reason for medical care in the National Institute of Neurology and Neurosurgery. The protein alpha-synuclein, SNCA,...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2016-10-16 00:00:00
abstract：INTRODUCTION:Non epileptic paroxysmal events (NEPE) are clinical disorders of usually sudden appearance, brief and originated by a cerebral disfunction of diverse causes with a common character to be no epileptic. DEVELOPMENT:The non epileptic paroxysmal events are more frequent than epileptic events. The 10% of the c...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-01-01 00:00:00
abstract：OBJECTIVES:We show the effectiveness of treatment with continuous intrathecal baclofen infusion in a case of hereditary generalized dystonia refractory to anticholinergics, tetrabenazine, pimozide, L-dopa, benzodiazepines and thalamotomy. CLINICAL CASE:A 26 years old female patient, when she was 11 years old began wit...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-01-16 00:00:00
abstract：OBJECTIVE:The literature on clinical and physiophatologic characteristics of the spectrum of memory disorders in childhood is reviewed in this article. DEVELOPMENT:There are only a few detailed reports of permanent specific memory disorders in children. Early anoxo ischaemic bihippocampal injuries can cause a selectiv...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-02-01 00:00:00
abstract：INTRODUCTION:Idiopathic herniation of the spinal cord is a rarely diagnosed condition. It is important since this cause of paraparesis is potentially curable if diagnosis is made early. Our aim is to report a new case, review the relevant literature, describe the radiological findings and consider the etiopathogenic fi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-01-01 00:00:00
abstract：INTRODUCTION:The Aragon Stroke Care Plan (PAIA) was created in 2008 within the framework of the Spanish National Health System. Monitoring hospital care of strokes by means of periodic audits was defined as one of its lines of work. AIM:To determine the quality of the hospital care process for stroke patients in Arago...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2016-07-16 00:00:00
abstract：OBJECTIVE:To review the mechanisms involved in the appearance of respiratory failure in patients with neuromuscular disorders. DEVELOPMENT:The development of respiratory failure in patients with weakness of the respiratory muscles secondary to neuromuscular disease is not only due to the disease itself. There are also...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-01-01 00:00:00
abstract：INTRODUCTION:The term «gossypiboma» comes from the Latin gossypium, which refers to a genus of cotton plants, and from the Swahili word boma, which translates as «place of concealment». It may be mistaken for tumorous lesions or abscesses due to the way it is encapsulated, as evidenced in imaging examinations, and its ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：10.33588/rn.6909.2019282
更新日期：2019-11-01 00:00:00
abstract：INTRODUCTION:The signals obtained during conventional needle examination are usually assessed subjectively by the neurophysiologist. Buchthal's approach allows quantification of several motor unit parameters during mild effort. DEVELOPMENT:The automatic methods of analysis of the EMG interference pattern (IP), in part...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-03-16 00:00:00
abstract：INTRODUCTION:Lamotrigine (LTG) is a new antiepileptic drug indicated in all kinds of partial and generalised clonic-tonic seizures, both in monotherapy and polytherapy. Between 20 and 30% of epileptic patients have poor control over their seizures despite adequate treatment. AIMS:We report on our experience regarding ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-02-16 00:00:00
abstract：TITLE:Equivalente migrañoso de inicio tardío con aura prolongada y alteración de la perfusión cerebral. : ...
journal_title：Revista de neurologia
pub_type： 信件
doi：10.33588/rn.7011.2019333
更新日期：2020-06-01 00:00:00
abstract：INTRODUCTION:The incidence in the central nervous system diseases has increased with a growing elderly population. Unfortunately, conventional treatments used to treat the mentioned diseases are frequently ineffective due to the presence of the blood brain barrier. AIM:To illustrate the blood-brain barrier properties ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2014-03-01 00:00:00
