Abstract:
INTRODUCTION:Adrenoleukodystrophy is a hereditary recessive sex-linked disorder with very variable phenotype expression, including classical infantil ALD, adrenomyeloneuropathy (AMN) in adults and sex-linked Addison's disease. Clinical observations. Three affected patients are presented. The first showed signs of myeloneuropathy from the age of 38 and diagnosis was made by showing raised serum and fibroblasts levels of very long chain fatty acids (C26:0). In the second case symptoms started at the age of 13 and cerebral and peripheral nervous system changes developed progressively. This patient's brother was the third case, showing symptoms when he was 21 and developing cerebral, medullary and peripheral nervous system involvement. In the latter two cases, diagnosis was made by showing intracytoplasmatic trilaminary inclusions in the nervous system. CONCLUSIONS:It is important to recognize the different varieties of this disease in view of the possibilities of genetic counselling and of the therapeutic implications which are currently being evaluated.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Ara JR,Carod FJ,Errea JM,Giménez-Más JA,Girós M,Marzo ME,Manubens JMsubject
Has Abstractpub_date
1996-07-01 00:00:00pages
843-7issue
131eissn
0210-0010issn
1576-6578journal_volume
24pub_type
杂志文章abstract::We studied 56 patients, 30 women and 26 men ranging from 30 to 79 years of age (average age 64.5 +/- 10.4), who were admitted to our hospital between 1982 and August 1995 with clinical features compatible with occlusion at the level of the bifurcation of the basilar artery. The patients were selected following clinica...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract:INTRODUCTION:Between 5 and 48% of the patients with Behçet s disease have neurological abnormalities. In children, meningoencephalitis as an initial manifestation of the disease is not frequent. CASE REPORT:We present a four years old girl with a Behçet s disease. When she was six months of age, during an hospitalizat...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2002-08-01 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:The occupational environment generates a large amount of illness which involves several specialities, including neurology. However, there is little awareness--or little training--in this field as in most medical specialities, since in the basic tool of a doctor's work, the clinical history, importance is s...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract:INTRODUCTION:OnabotulinumtoxinA (OnabotA) is indicated for headache prophylaxis in patients with chronic migraine. However, there is some controversy about what is the minimum effective dose for treating chronic migraine patients. AIM:To determine the optimal dose of OnabotA for the prophylactic treatment of patients ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2014-03-10 00:00:00
abstract:INTRODUCTION:Fingolimod is a selective immunosuppressant that targets the S1P receptor, and is indicated in the treatment of aggressive relapsing-remitting multiple sclerosis (RRMS) and following treatment failure with first-order drugs. AIM:To investigate the safety and effectiveness of fingolimod under the condition...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2017-05-16 00:00:00
abstract:INTRODUCTION:Multiple sclerosis is a demyelinating neurological disease that usually gives rise to motor, perceptive, affective and cognitive disorders in patients. These symptoms can lead the person to lose his or her job and lower the quality of life of both patients and their relatives. AIM:To review the literature...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2014-02-16 00:00:00
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:INTRODUCTION:Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease that essentially affects the white matter of the central nervous system. The diagnosis is based on clinical-imaging and developmental findings. Magnetic resonance imaging of the brain is the most useful diagnostic tool. The disease cour...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2013-10-01 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:INTRODUCTION:The impossibility of treating patients with sleep disorders adequately means that, as specialists, we have to look for new pharmacological treatments and for this reason we examined the information in the paper by Salin Pascual (1999) about the increase in deep sleep when olanzapine is used as an antipsych...
journal_title:Revista de neurologia
pub_type: 临床试验,杂志文章
doi:
更新日期:2004-05-01 00:00:00
abstract:INTRODUCTION:In clinical practice, it is common to find cases of epileptic women being treated with antiepileptic drugs (AEDs) whom we have to advise on the compatibility of these AEDs with breastfeeding. AIMS:In order to offer correct guidance, we must be well informed about the pharmacokinetic characteristics of the...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:10.33588/rn.6902.2019037
更新日期:2019-07-16 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: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::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: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:INTRODUCTION:The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. CASE REPORT:We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2015-05-16 00:00:00
abstract:INTRODUCTION:Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease. Clinical features include tendon xanthomas, premature cataracts and progressive neurologic dysfunctions. Substantial elevation of serum cholestanol and urinary bile alcohols and their precursors establishes the diagno...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1996-12-01 00:00:00
abstract::INTRODUCTION. Takotsubo syndrome (TTS) is a rare condition that mimics an acute myocardial infarction. It is associated with precordial pain, ST segment elevation, absence of coronary occlusion and reversible deformation of the left ventricle due to anteroapical dyskinesia that is reminiscent of a Japanese art of fish...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2012-12-16 00:00:00
abstract:TITLE:Encefalitis multifocal como manifestación neurológica de la infección por COVID-19. ...
journal_title:Revista de neurologia
pub_type: 信件
doi:10.33588/rn.7109.2020226
更新日期:2020-11-01 00:00:00
abstract:INTRODUCTION:Ocrelizumab is a humanised monoclonal antibody that targets the CD20 antigen on B cells. It has recently been approved by the US (Food and Drug Administration) and European health agencies (European Medicines Agency) for the treatment of multiple sclerosis (MS) and is the first drug marketed for both relap...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2018-06-16 00:00:00
abstract:INTRODUCTION:Stroke is a leading cause of mortality and disability. Policosanol has been effective in brain ischemia models. The aim of this study is to investigate whether policosanol, added to aspirin therapy within 30 days of stroke onset, is better than placebo + aspirine for the long-term recovery of non-cardioemb...
journal_title:Revista de neurologia
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2017-02-16 00:00:00
abstract:INTRODUCTION AND DEVELOPMENT:Impairments in language and communication are a defining feature of autism spectrum disorders. There is significant variability in linguistic abilities in autism spectrum disorders. They have difficulties with certain aspects of language such as semantics functions, syntax, prosody and phon...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2010-03-03 00:00:00
abstract:INTRODUCTION:In recent years, significant advances have been made in the physiology and the pharmacology of vestibular disorders. It is now possible to elaborate an approximation of the mechanisms of action of the drugs used in the symptomatic treatment of vertigo. DEVELOPMENT:These drugs usually have a number of diff...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2004-08-16 00:00:00
abstract:TITLE:XXXI Reunion da Sociedade Galega de Neuroloxia. Comunicaciones. : ...
journal_title:Revista de neurologia
pub_type:
doi:
更新日期:2017-07-16 00:00:00
abstract:OBJECTIVES:The aim of the study was the short term test-retest-reliability of electrophyisiological correlates of simple processes of the motor control, i.e. the execution (go) and the inhibition (no go) of a prepared motor response, evoked during the Continuous Performance Test (CPT). Our interest was centered in the ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract:INTRODUCTION:This paper review current literature about neurocysticercosis with emphasis on recent advances on diagnosis and therapy. DEVELOPMENT:Cysticercosis is the most common parasitic disease of the nervous system. The disease occurs when humans become the intermediate host in the life cycle of Taenia solium by i...
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:Cochrane Collaboration (CC) contains detailed, critical and up-to-date systematic reviews (SR) of the best scientific evidence available. AIM:To analyse the bibliometric characteristics of the SR related to paediatric neurology published in the 50 Collaborative Review Groups (CRG) of the CC. MATERIALS AN...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2006-11-16 00:00:00
abstract:INTRODUCTION AND OBJECTIVE:When the clinical picture consists of prominent cognitive impairments (e.g. amnesia) with relatively mild behavioral symptoms, it can be very difficult to distinguish frontal lobe dementia (FLD) from Alzheimer disease (AD). However, these conditions may have distinct cognitive profiles that c...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract:AIM:To estimate the prevalence of dementia in the population aged above 65 in the district of Mungialde, Vizcaya. SUBJECTS AND METHODS:We conducted a two-phase door-to-door populational study. The Minimental State Examination and the Pfeiffer questionnaire were used in the screening phase. The Clinical Dementia Rating...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2008-01-16 00:00:00