Abstract:
INTRODUCTION:Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive disorder featuring recurrent fever episodes, inability to sweat, absent response to noxious stimuli, self mutilating behavior and mental retardation. It has been associated with mutations in the NTRK1 gene, located in 1q21-22 and encoding a high-affinity NGF receptor. CASE REPORT:An 8-year-old boy, the first son of consanguineous parents, presented with hypotonia, episodic hyperpyrexia and global developmental delay since the neonatal period. In addition to these signs, typical of CIPA, he displayed some other not previously described in this disease, such as facial dysmorphism, a severe swallowing disorder and a myogenic EMG pattern, that led to the initial suspicion of a muscle disorder. Molecular genetics studies uncovered a mutation c.C2011T in exon 15 of the NTRK1 gene. Genetic counselling was possible in the following pregnancy of the couple, where the female fetus was found to harbour the mutation in heterozygosity. The subsequent diagnosis of a congenital myasthenic syndrome in this sister led to neurophysiological re-evaluation of the probandus, in whom a myasthenic pattern of muscle activation was also found. CONCLUSIONS:A patient with CIPA and congenital myasthenic syndrome is described. CIPA must be the first diagnostic hypothesis when assessing a patient with insensitivity to pain, anhidrosis and self-mutilation. Given the rather homogeneous presentation of CIPA, the occurrence of atypical myopathic manifestations should raise the suspicion of a concurrent disorder. The present consanguineous kindred illustrates a rare instance of transmission of two mutated alleles giving rise to two unrelated, infrequent neurological syndromes.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Raspall-Chaure M,Del Toro-Riera M,Gratacós M,Cuenca-León E,Ferrer I,Indo Y,Roig-Quilis M,Macaya-Ruiz Asubject
Has Abstractpub_date
2005-08-16 00:00:00pages
218-22issue
4eissn
0210-0010issn
1576-6578pii
rn2005011journal_volume
41pub_type
杂志文章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:Most patients with Parkinson's disease have cognitive and behavior disorders during the course of their illness. OBJECTIVE:In this study we consider practical aspects of the treatment of patients with Parkinson's disease who have such problems. DEVELOPMENT:Better understanding of both normal and abnormal...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1999-07-16 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:AIMS:Given the diversity of criteria regarding the use of the midlatency auditory evoked potential (MLAEP) for diagnostic purposes, we carry out a review of the subject and highlight areas such as the generators of fundamental components, the conditions in which responses are obtained, factors that can modify results a...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2003-09-16 00:00:00
abstract::Autism spectrum disorder (autism) is a highly prevalent and heterogeneous family of neurodevelopmental disorders of genetic origins with potentially devastating implications for child, family, health and educational systems. Despite advances in paper-and-pencil screening and in standardization of diagnostic procedures...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2015-02-25 00:00:00
abstract:OBJECTIVES:To review the mechanisms of cell death (CD) in the developing brain after hypoxia-ischemia (HI). DEVELOPMENT:The possibility of limiting the CD which occurs in serious situations of cerebral HI is based on advances in the understanding of the underlying cellular and molecular mechanisms. Various experimenta...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2000-10-16 00:00:00
abstract:INTRODUCTION:Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2009-01-23 00:00:00
abstract:INTRODUCTION:It has been previously shown that cluster headache (CH) can involve some extratrigeminal areas. Occipital pain has been recognized in several patients, even as the origin of the attacks. Nevertheless, the proposals of topographic variations of CH have been mainly focused on the location of pain in either s...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2011-04-01 00:00:00
abstract:AIMS:The study reviews language disorders in children. Taking their normal development as the starting point, the work puts forward a differential diagnosis based on the symptoms presented in the moment the patient visited the physician. It also suggests an approach for children with language disorders from the neuropa...
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:Studies on focal dystonia showed that the formulations of botulinum toxin type A, incobotulinumtoxin-A (Inco-BTA) and onabotulinumtoxin-A (Ona-BTA), have equivalent efficacy and safety. AIM:To carry-out a cost-utility analysis of Inco-BTA administered on flexible intervals vs. Ona-BTA on a fixed interval,...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2018-12-16 00:00:00
abstract::This study reports on the latest advances in childhood headaches that have been made in the last few years, with special emphasis on the important new modifications that have been produced with respect to the previous ones, published in the beta version of the third edition of the International Classification of Heada...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2018-06-05 00:00:00
abstract:INTRODUCTION:The cognitive effects of long-term exposure to organic solvents could be similar to those triggered by certain neurodegenerative diseases. AIMS:The purpose of this study was to evaluate the effects exerted by accumulated exposure on the cognitive functions. PATIENTS AND METHODS:105 subjects with an avera...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2003-12-01 00:00:00
abstract:AIMS:To evaluate the presence of epileptiform discharges and the organisation of nocturnal sleep of autistic children without nocturnal polysomnographic epileptic seizures. SUBJECTS AND METHODS:Cross section analysis. SUBJECTS:21 boys and girls with autistic spectrum using DSM IV criteria between the ages of 4 and 12...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2002-06-16 00:00:00
abstract:OBJECTIVE:The atherosclerosis is the most common cause of death and disability in developed countries by causing ischemic cardiopathic and stroke. The ischemic atherotrombotic stroke is the most frequent form of the last one. In this sense we review herein the mechanisms underlying the artherosclerotic process. DEVELO...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2002-09-01 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:AIM AND DEVELOPMENT:To debate about the application of on-going 'revolutions' in medical knowledge to Spanish neurological journals in the 21st century. This article reviews the current status of five revolutions in the field of health sciences, in general, and in neurological sciences, in particular: 1) the knowledge ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2007-01-16 00:00:00
abstract:INTRODUCTION:A good deal of evidence currently exists to show that transplanting foetal mesencephalic tissue can produce symptomatic benefits both in patients and in disease models. Nevertheless, the technical and ethical difficulties involved in obtaining enough suitable foetal cerebral tissue have been a serious obst...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2004-08-16 00:00:00
abstract:INTRODUCTION:Depression is a state of mind often associated with Parkinson's disease, which is not correlated with the stage of the disease or the response to treatment with L-dopa. It has been suggested that patients with right-sided Parkinsonism have more depression than those with left-sided. OBJECTIVE:To assess wh...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2000-12-16 00:00:00
abstract:UNLABELLED:Introduction. Epileptic crises presenting exclusively during sleep are rare and pose more problems of diagnosis than do crises of diurnal presentation. PATIENTS:We present the clinical and electroencephalographic data of 20 patients with exclusively sleep-induced epileptic crises, evaluating not only the ty...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1996-10-01 00:00:00
abstract:INTRODUCTION:Decrease in incidence of neurosyphilis over the last few decades implies that clinicians consider less frequently this diagnosis. On the other hand, some reports suggest an increase in atypical forms of this disease that represent an additional reason for missing this diagnosis. CLINICAL CASE:We report on...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2000-09-16 00:00:00
abstract:INTRODUCTION:It is a well-known fact that a relatively high proportion of patients with essential tremor are resistant to a number of pharmaceuticals currently used to treat the condition. AIM:To assess the effectiveness and safety of levetiracetam (LEV) in patients who displayed little or no response or intolerable s...
journal_title:Revista de neurologia
pub_type: 临床试验,杂志文章
doi:
更新日期:2007-08-01 00:00:00
abstract:INTRODUCTION:The Iowa Rating Scale for Personality Change (IRSPC) presents some features (puts an emphasis on the motivational and emotional functions; evaluates the 'cognitive' executive functions in the daily life; estimates the premorbid personality; values the informant reliability) that make it use really interest...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2015-01-01 00:00:00
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: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:Type 1 myotonic dystrophy (MD-1) or Steinert disease is a multisystemic progressive disorder. Studies have shown cognitive deficits, depressive symptoms and a high incidence of anxiety personality traits that compromise both the functionality and the quality of life of these patients. AIM:To describe the ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2015-12-16 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:INTRODUCTION AND AIMS:Chronic immune-mediated neuropathies are characterised by their being predominantly demyelinating, by being associated to specific antibodies and by their response to immunotherapy. We evaluated the clinical, electrophysiological and immunological responses following treatment with intravenous imm...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2005-03-16 00:00:00
abstract:INTRODUCTION:Stroke is a recognized cause of disability among adults. However the impact that the deficits that occur after a moderate/severe stroke have on long-term disability, as well as the response of the resultant deficits to rehabilitation, are not completely understood. PATIENTS AND METHODS:A total of 396 pati...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2017-05-01 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:OBJECTIVES:To obtain better understanding of the neurophysiology of sleep and of depression, together with any relationship there might be between them. DEVELOPMENT:We review the mechanisms of action of the neurotransmitters involved in the sleep-waking cycle, and also the antidepressive drugs, concentrating on those ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2000-01-16 00:00:00