Abstract：
INTRODUCTION:A large number of diseases present as bilateral striatal lesion syndrome (BSLS). Clinical manifestations, course and prognosis of these diseases are extremely variable. On the basis of their evolutive course, they can be separated into two major groups: acute, which include toxic, infectious or parainfectious causes, and subacute or chronic, in which inborn errors of metabolism, especially mitochondrial disorders, are the main causes. CASE REPORT:We report a detailed clinical follow-up of a 18 years old Caucasian male who, at the age of four, presented with BSLS. A respiratory chain defect was suspected on the basis of slowly progressive dystonia and cognitive impairment, changes in serial MRI studies, and the finding of 'trabecular fibers' as well as a 50% decrease of the complex I activity in striated-skeletal muscle specimen. Blood, urine and CSF markers classically associated with respiratory chain diseases were normal. Molecular studies identified a new pathogenetic mutation (T14487C) in the mitochondrial ND6 gene of the respiratory chain complex I. CONCLUSION:Mitochondrial metabolism disorders should be ruled out in patients presenting with a subacute or chronic form of BSLS even in the absence of other common mitochondrial disease markers.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Raspall-Chaure M,Solano A,Vázquez E,Macaya-Ruiz A,del Toro-Riera M,Cabezuelo-Briones A,Montoya J,Andreu A,Roig-Quilis Msubject
Has Abstractpub_date
2004-12-16 00:00:00pages
1129-32issue
12eissn
0210-0010issn
1576-6578pii
rn2004296journal_volume
39pub_type
杂志文章abstract：:The term 'epileptic equivalent' has had different meanings in recent years, for both doctors and lawyers (who have copied their reports). Our interest is due to finding that in the jurisprudence of the Supreme Court that we have reviewed, these terms are still taken into consideration when passing judgement or declari...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-03-01 00:00:00
abstract：OBJECTIVES:To review current knowledge regarding the mechanisms of action, pharmacokinetics, clinical efficacy and the tolerance of topirimate (TPM) and describe the Spanish experience of the use of this drug in 224 patients of all ages. DEVELOPMENT:TPM is a new drug which affects practically all the mechanisms involv...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2000-06-01 00:00:00
abstract：AIMS:The purpose of this study is to review different aspects of mitochondrial myopathies. DEVELOPMENT:Mitochondrial DNA is different to that found in the nucleus and is generally inherited through the mother. There are from 2 to 10 copies per mitochondrion and hundreds or thousands of mitochondria per cell. It contai...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-10-16 00:00:00
abstract：OBJECTIVE:To show the disorders of the brain cortical development and the possible origin in base to a large series studied in a Pediatric Neurology service. PATIENTS AND METHODS:A series of 144 children with ages ranging between newborn and 12 years was studied from the clinic, image (MR, 3DMR) and evolutive point of...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-08-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
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更新日期：2014-03-10 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
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更新日期：2007-01-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 信件
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更新日期：2020-06-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-02-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-09-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-06-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
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更新日期：2000-08-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-05-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-01-16 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：: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
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-11-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2016-09-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2008-09-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-10-16 00:00:00
abstract：INTRODUCTION:Status epilepticus (SE) is the most common neurological emergency on pediatric. Given the possibility of neurological sequelae and mortality associated, it requires an early aggressive treatment. PATIENTS AND METHODS:Retrospective descriptive study based on the review of medical histories of patients admi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2015-05-01 00:00:00
abstract：INTRODUCTION:In recent years the demand for ambulatory neurological care has risen. Studying this situation can help to improve health care planning and the quality of the referrals from primary care. AIM:To analyse a number of variables involved in the first visits referred from primary care to neurology services. P...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-05-01 00:00:00
abstract：INTRODUCTION:Sciatic nerve paralysis is a rare entity in the newborn. Few reference in specialized tests indicate that in the majority of cases the sciatic palsy has been observed after misplaced injections into the buttocks. The prognosis is variable and appears to be better after umbilical vessel catheterization for ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-05-01 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 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:Primary angiitis of the central nervous system (CNS) is a rare disease. Clinical signs and symptoms include headache and cognitive disorders associated to multifocal neurological deficits. A definitive diagnosis can only be achieved by means of a cerebromeningeal biopsy. CASE REPORT:We describe the case o...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-02-16 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:Perinatal mortality has dropped markedly in recent years. However, there is still a considerable prevalence of neurological sequelas. Symptoms may present during the first months of life or later. Thus it is necessary to follow-up children with a clinical history of risk of neurological disorders. DEVELOP...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2000-10-01 00:00:00
abstract：:The Landau-Kleffner syndrome consists of the association of paroxysmal EEG abnormalities, more marked during sleep, acquired aphasia usually of receptive type, and epileptic seizures in three quarters of cases. Additional features include behavioral disturbances that may even present with autistic features, cognitive ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-08-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-10-01 00:00:00
abstract：INTRODUCTION:It may be difficult to determine the adequate mement, the information content and the most convenient person to inform patients with chronic, incurable disorders with uncertain prognosis as sclerosis multiple (MS). MATERIAL AND METHODS:To gain information on how these aspects had been carried-out and the ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
