Abstract:
INTRODUCTION:The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the Notch3 gene in the chromosome 19p13.1. and is characterized by small-vessel disease of the cerebral. The clinical feature consists of migraine, recurrent strokes, mood changes and dementia. OBJECTIVE:To describe the clinical phenotype of a Colombian family with hereditary cerebrovascular disease. PATIENTS AND METHODS:We performed one pedigree with 268 individuals, neurologic examination to 57 members and magnetic resonance imaging (MRI) to 25 of them. RESULTS:Clinical analysis strongly support the diagnosis of CADASIL because 12 individuals had suffered recurrent stroke, five of them later developed subcortical dementia. Two patients developed dementia without preceding stroke. All affected individuals by stroke or dementia whom were tested with MRI had white matter hyperintensities and subcortical infarcts (nine cases). Others seven individuals have MRI signal abnormalities like CADASIL, four of them are asymptomatic, one had suffered ischemic transient attacks and two had suffered migraine. Other 22 individuals had only migraine. We outstand the high frequency of MRI signal abnormalities in corpus callosum that we found in five individuals with stroke or dementia, the patient with ischemic transient attack and one asymptomatic patient, either the presence of hearing loss in seven individuals with stroke or dementia. CONCLUSIONS:We describe one large family with hereditary cerebrovascular disease characterized by recurrent strokes, subcortical dementia, hearing loss, migraine, and MRI signal abnormalities typed leukoencephalopathy, subcortical infarcts and alterations in corpus callosum. Clinical analysis strongly support the diagnosis of CADASIL.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Lopera F,Arboleda J,Moreno S,Almeida N,Cuartas M,Arcos-Burgos Msubject
Has Abstractpub_date
2000-11-16 00:00:00pages
901-7issue
10eissn
0210-0010issn
1576-6578journal_volume
31pub_type
杂志文章abstract:INTRODUCTION:Primary care professionals need useful and simple tools to detect early cognitive impairment in patients with any clinical suspicion of dementia. AIM. This critical review attempts to analyze the psychometric properties of cognitive screening tests, commonly used for screening dementia in primary care sett...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2010-12-01 00:00:00
abstract:INTRODUCTION:Restless legs syndrome (RLS) is a usual neurologic disorder, often undiagnosed and treatable, usually associated with sleep disturbance. Our goal was to study prevalence of RLS in our practice. PATIENTS AND METHODS:Descriptive, cross-sectional study, in a Primary care center. 283 patients 50 years old or ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVE:In this paper we review the main magnetic resonance studies to show a possible relationship between changes in the white matter of the brain or leukoaraiosis, and the neuropsychological profile of elderly persons without dementia. DEVELOPMENT:The articles published to date show contradictory data, and in nea...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2001-08-16 00:00:00
abstract:INTRODUCTION:Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. DEVELOPMENT:The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of c...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2006-04-10 00:00:00
abstract:OBJECTIVE:To investigate some immune component that could contribute to the pathogenesis of Alzheimer's disease associated with the E280A mutation of the presenilin-1 gene (PS-1). PATIENTS AND METHODS:Serum antibodies against both cardiolipin and beta-amyloid peptides (beta 1-40 and beta 1-42) were quantitated by mean...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1999-12-16 00:00:00
abstract:INTRODUCTION AND AIMS:The dysexecutive questionnaire (DEX) has been used to study executive deficits in both clinical samples (both psychiatric and neurological) and non-clinical samples, although agreement on its factorial structure is lacking. The aim of this research is to study that structure in the self-administer...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2012-12-01 00:00:00
abstract:INTRODUCTION AND OBJECTIVE:The treatment of non traumatic intra cerebral haemorrhage is one of the therapeutic challenges at the present time. In spite of present day technology and advances in understanding its physiopathology, the prognosis is the same as it was fifteen years ago. We review the surgical treatments us...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2001-06-01 00:00:00
abstract:INTRODUCTION:Stroke is a serious but potentially reversible entity. Reducing the time of care in the acute phase is essential to limit morbidity and mortality. The evaluation of the performances in stroke care is essential because it allows identify opportunities for improvement. AIM:To understand and analyze the dete...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2016-02-16 00:00:00
abstract:INTRODUCTION:The progress made in perinatal health care in recent years has changed the epidemiology of neurological diseases during the neonatal period. The reduction in neonatal mortality has been accompanied by an increasingly large number of patients suffering from disabling diseases or with a risk of suffering fro...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION AND DEVELOPMENT:Frontal lobe, more specifically prefrontal cortex, is one of the brain regions that undergoes more protracted ongoing development. The wider the developmental window of one brain structure, the more vulnerable the functions related to it. Hence, executive functions, which are mediated by pr...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2004-07-16 00:00:00
abstract:INTRODUCTION:Functional hemispherectomy consists in palliative epilepsy surgical procedure usually performed in patients with pharmaco-resistant epilepsy and hemispheric syndromes. It is based on the neural disconnection of the affected hemisphere with preservation of the vascular supply. AIM:To analyze long-term prog...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2018-03-01 00:00:00
abstract:AIMS:Following the diagnosis of intellectual disability, a prognosis can be offered concerning the degree of autonomy the child will be able to achieve based on prior experience, but which depends on the aetiology of the disability. It is still difficult to give a prospective answer regarding the capacity to reach an o...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2005-01-15 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:Purely bulbar hematomas are not common (0.25%-0.50% of all intraparenchymatous hematomas), probably because of the particular characteristics of the anatomy and hemodynamics of the bulbar circulation. CLINICAL CASES:We selected 18 cases. Three of these were our own and the purely bulbar localization was c...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1998-10-01 00:00:00
abstract:INTRODUCTION:Fractures of the odontoid process make up between 10 and 15% of all cervical fractures. The decision as to when to operate on them is still controversial; the dilemma as to whether to use surgical or conservative treatment is still a problem. PATIENTS AND METHODS:We designed a descriptive study, which was...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2001-12-01 00:00:00
abstract:INTRODUCTION:Primary prevention by prophylactic vaccination against the major cause of cervical cancer, the carcinogenic human papillomavirus (HPV) types 16 and 18, is now available worldwide. Postlicensure adverse neurological effects have been described. The studies realized after the license are descriptive and limi...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2011-04-16 00:00:00
abstract:INTRODUCTION:The determination of human leukocyte antigen (HLA) class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. The HLA genotyping is reliable, easy to perform and reassures the clinician. It is also less invasive than other methodologies and is in accordance with the ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2014-01-16 00:00:00
abstract::The evidence base from empirical studies is one of the elements, along with patients' preference and consideration of particular clinical state and circumstances, that should be taken into account in the process of clinical decision making. This paper provides an overview of the current evidence base for the treatment...
journal_title:Revista de neurologia
pub_type:
doi:
更新日期:2017-02-24 00:00:00
abstract::In the last years there is an increasing interest in the knowledge of vascular status in patients with acute stroke. Detection and localization of an artery occlusion is of great interest for an accurate prognosis and the selection of the most appropriate recanalizing therapy. Neurosonology is a useful diagnostic tool...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:The retina is a neuronal membrane that covers the posterior part of the eye chamber and is formed by several layers. The retinal function can be synthesize as the light translation into nervous impulses in the optic nerve. MATERIAL AND METHODS:The ERG is the expression of the changes of the electrical pot...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1998-03-01 00:00:00
abstract:INTRODUCTION:Tuberculous involvement of the CNS is most frequent in children aged between 6 months and 6 years, although it may occur at any age. It may present as meningoencephalitis, basal arachnoiditis or intracranial tuberculomas. Whilst meningitis is typical of infancy, tuberculomas and arachnoiditis are commoner ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2001-07-01 00:00:00
abstract:INTRODUCTION:Pressure is a thermodynamic variable that, like temperature, affects the states of matter. High pressure is an environmental characteristic of the deep sea. Immersion to depth brings about an increase in pressure of 0.1 MPa (1 atm) for each 10 m of seawater. Humans exposed to high pressure, mostly professi...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2007-11-16 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:INTRODUCTION:Acute vascular lesions limited to the midbrain can yield varied disturbances of eye movements. They are more often infarcts than hemorrhages. CLINICAL CASE:We present the case of a 49 year old, non-hypertensive man who presented with sudden onset of bilateral up and down gaze palsy. CT defined a unilatera...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2000-02-16 00:00:00
abstract:INTRODUCTION:Congenital malformations of the brain often are complex disorders which display a wide spectrum of neurological manifestations. The presence of this diversity makes it difficult to correlate clinical findings with neuropathological abnormalities or through neuroimaging studies. DEVELOPMENT:Furthermore, th...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1999-01-16 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:INTRODUCTION:The advance in the achievement of effective therapies for multiple sclerosis (MS), the definition of appropriate therapeutic windows and to establish better diagnostic and prognostic biomarkers have become a challenging task for both researchers and clinicians. Some pitfalls in clinical trials might be rel...
journal_title:Revista de neurologia
pub_type: 指南,杂志文章
doi:
更新日期:2012-01-16 00:00:00
abstract:INTRODUCTION:Diagnostic criteria of transient global amnesia (TGA) establishes that memory functioning has to be recovered in 24 hours. However, there are contradictory data about the existence of long-term sequelae. Furthermore, there is no consensus about which is the most suitable tool in order to use in the assessm...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2011-07-01 00:00:00
abstract:INTRODUCTION:It is an accepted fact that it is wise to start antiepileptic treatment with monotherapy, but 30% of patients do not respond to it or to several monotherapies; in that moment an association of two or more antiepileptic drugs is commonly utilised (the appearance of ten second-generation antiepileptic drugs ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2007-07-16 00:00:00
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