Abstract：
INTRODUCTION:Since description of the expansion of the number of CTG trinucleotides on the long arm of chromosome 19 in the 19 q 13.2-13.3 interval as being responsible for myotonic dystrophy (DM), many studies have established a direct relationship between the size of the expansion and the severity of the manifestations. OBJECTIVES:To evaluate the clinico-genetic correlation in a population with DM in Eastern Andalucia and to establish the predictive value of the increase in number of CTG repetitions with regard to clinical gravity. PATIENTS AND METHODS:A transverse study of persons from families known to have members with DM, classified with regard to the clinical gravity of their illness. Diagnosis was by means of clinical neurological, ophthalmological and neurophysiological examination and subsequently by genetico-molecular study, Southern blot, PCR, oligonucleotide CTC hybridization and Northern blot. RESULTS:Genetic studies confirmed the previous clinical diagnosis of DM in 78 persons, of the 145 studied, who came from 32 families. The average size of the mutation was 1-5 kb. There was close correlation between the size of the expansion and the clinical condition. Logistic repression studies permitted adequate classification in function of the size of the expansion in 87.23% of the cases of clinically relevant illness and in 90% of the cases in which the condition was not clinically relevant. CONCLUSIONS:There is a strong association between the clinical features of DM and the magnitude of the mutation. The size of the expansion has considerable predictive value in prognosis of the disorder. This may be useful when making decisions during prenatal diagnosis.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
García-Gómez T,Maestre J,Garrido ML,Vilches R,Fernández MD,Mínguez A,Serrano Psubject
Has Abstractpub_date
1999-09-16 00:00:00pages
499-502issue
6eissn
0210-0010issn
1576-6578journal_volume
29pub_type
杂志文章abstract：INTRODUCTION:Epilepsy and the epileptic syndromes are common neurological diseases and represent an important public health problem that has given rise to marked social and healthcare concerns. AIM:To analyse the changes in the consumption of antiepileptic drugs in the Basque Country Autonomous Community over a 13 yea...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2008-04-16 00:00:00
abstract：:It has been stated that findings in neonatal neurological examinations can play a role as a pointer to adverse developmental outcome. The description of the examinations, and their presence or absence differed among authors without clear reference to their physiological variability ranges. We approached the study of s...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：OBJECTIVE:To present a new formulation of human death based on neurological considerations. DEVELOPMENT:One of the reasons there is still controversy over a new formulation of human death which is acceptable to society, is that many authors do not suitably integrate three fundamental aspects which should be included i...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-06-01 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 AND OBJECTIVES:Little data has been published in Spain on motor neurone disease or amyotrophic lateral sclerosis. This study reports data on incidence and mortality in Cantabria and incidence in Segovia. It discusses and compares them emphasizing certain characteristic features of the epidemiology of the d...
journal_title：Revista de neurologia
pub_type：
doi：
更新日期：1999-11-01 00:00:00
abstract：INTRODUCTION AND CLINICAL CASE:A 58-year-old hypertensive man presented with the sudden onset of quadriplegia and inability to protrude the tongue. Magnetic resonance imaging showed a bilateral medial medullary infarction associated with an abnormally dilated and partially occluded vertebral artery. CONCLUSION:This is...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:The processing of faces and recognition of familiar faces involves activity in many regions of the brain: 1. The visual association cortex in the act of constructing the perceived object; 2. Hippocampus and frontotemporal regions in the process of comparing what has been perceived with reme...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-03-01 00:00:00
abstract：INTRODUCTION:The early years of life, more especially the first three, are dominated by a series of anatomical-functional facts that express the progressive enrichment of behaviour through the process of neurological maturation, which is expressed as reaching the maximum level of functioning at each stage of developmen...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2013-09-06 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 evaluate the treatment modalities used in children (ages 1-18 years) with cerebral infarction. BACKGROUND:[corrected] Cerebrovascular disease in children is more common than once suspected but its treatment has not been rigorously studied. MATERIAL AND METHODS:We reviewed all cases of cerebral infarction...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-06-01 00:00:00
abstract：INTRODUCTION:Arterial gas embolism (AGE) is a main iatrogenic complication resulting from the use of invasive procedures. It is difficult to diagnose if it is not clinically suspected. CASE REPORT:A 67-year-old male patient, with a history of interventions involving a mitral prosthesis and a double aortocoronary bypas...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-02-01 00:00:00
abstract：INTRODUCTION:Primary bone lymphomas account for 3-7% of all malignant bone tumours and less than 2% of lymphomas in adults. Having the cranial vault as their primary location is very infrequent. CASE REPORT:A 59-year-old female who presented a painful tumour on the cranial vault which, following radical surgical remov...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2011-12-16 00:00:00
abstract：INTRODUCTION:The practical application of a questionnaire designed to evaluate the quality of life of an epileptic child, known as the CAVE test, is described. This is the first scale of its kind. The test consists of 8 parameters: conduct, attendance at school, learning, independence, social relationships, frequency o...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-03-01 00:00:00
abstract：TITLE:Facilitar el acceso a toda la informacion debe ser una obligacion para las revistas medicas. : ...
journal_title：Revista de neurologia
pub_type： 信件
doi：
更新日期：2018-02-16 00:00:00
abstract：TITLE:Aneurisma traumatico de la arteria meningea media en el contexto de un hematoma epidural. : ...
journal_title：Revista de neurologia
pub_type：
doi：10.33588/rn.6904.2019145
更新日期：2019-08-16 00:00:00
abstract：:Studies of vision using electrophysiological techniques are tests which record functional alterations in very early phases of a disease. Full field flash ERG evaluates the integrity of the cones, rods and bipolar cells. It is obtained by photopsic stimulation with Ganzfeld and contact lens corneal electrodes or, alter...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-02-15 00:00:00
abstract：AIMS:The purpose of this work was to gather the information currently available about the content of nerve growth factor (NGF) in experimental models of neurodegeneration and in neurodegenerative diseases, including Alzheimer's, Parkinson's and Huntington's diseases, as well as to analyse how NGF content is affected by...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-05-16 00:00:00
abstract：INTRODUCTION:Tumours in the pineal region are rare (0.3-2.7%) and most of the ones that do occur are germ cell tumours, of which germinoma is the most frequent. They are chiefly located in the pineal gland, the next most common being site being the suprasellar region and the fourth ventricle, although simultaneous pres...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2008-04-01 00:00:00
abstract：INTRODUCTION:Over the last twenty years much work has been done to study the P300 in alcoholism. A systematically reduced amplitude, both in patients and in populations at risk (children of alcoholics) was found. Besides, studies on twins indicate that the waves of the evoked potentials are under genetic control. Furth...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2000-04-16 00:00:00
abstract：INTRODUCTION:At present, cholinesterase inhibitors constitute the basis for therapy of Alzheimer's disease (AD); these drugs were rationally introduced given the loss of central cholinergic neurotransmission, even though there are many other systems affected in AD, including glutamatergic pathway. DEVELOPMENT:In addit...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-04-16 00:00:00
abstract：: TITLE:Sindrome de Guillain-Barre en tiempos de arbovirosis. ...
journal_title：Revista de neurologia
pub_type： 评论,信件
doi：
更新日期：2018-12-01 00:00:00
abstract：INTRODUCTION:Many studies have shown that smoking is lower in patients with Parkinson s disease. However, in other investigations this was not observed. The various studies involved showed wide variation with regard to methodology, criteria for diagnosis and periods of observation and hence it is difficult to compare t...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-04-01 00:00:00
abstract：:Prenatal risk factors causing cerebral palsy (CP), here defined as a non-progressive motor abnormality of tone or posture, are much more numerous than once believed, when a great deal of brain injury was attributed to factors surrounding delivery. Scientific advances in genetics and biochemistry, as well as clinical t...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-08-01 00:00:00
abstract：OBJECTIVE:To review the incidence and causes of the infections and metabolic diseases of the nervous system in patients with systemic neoplasias. DEVELOPMENT:Patients with immunodeficiency, particularly those with hematological neoplasias and persons treated with immunosuppressive drugs have a considerable tendency to...
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：INTRODUCTION:Valproic acid (VPA) is a drug mainly used to treat epilepsy. Hyperammonaemic encephalopathy due to VPA is a rare but serious complication. The mechanism by which VPA influences the increase in ammonia consists in blocking the urea cycle, thereby inhibiting N-acetylglutamate synthase and diminishing acetyl ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2017-11-01 00:00:00
abstract：AIM:To document reversible cognitive deterioration associated to high doses of zonisamide, using the Reliable Change Index to control practice effects derived from repetitive neuropsychological assessments. CASE REPORT:A 11 year-old boy with tuberous sclerosis complex and left frontal refractory epilepsy, evaluated wi...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2015-01-16 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:Hyperekplexia is a disease characterized by an exaggerated startle reflex in front of minimal tactile and/or acoustic stimuli, that usually goes with high muscular tone, except when the patient is sleep. When the patient grows, high muscular tone decreases and then appear sudden hypertonic episodes that ma...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：INTRODUCTION:Vasculitis or angiitis is the term used to define the inflammation of the vessels, either blood or lymphatic, which causes may be primary related to immunological disorders, or secondary, with great variety of causal factors. CASE REPORT:We present a very uncommon case of a 36 year old man with brain vasc...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-06-16 00:00:00
abstract：:The presence of oligoclonal bands (OCB) of immunoglobulin G (IgG) is in our days the most useful finding in the study of the CSF for the diagnosis of multiple sclerosis (MS). The most sensitive method for the detection of OCB is the isoelectric focusing followed by immunoblotting. The prevalence of OCB changes in diff...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-06-16 00:00:00
