Abstract:
:Creutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15% of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF. The complete prion protein gene coding region was sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CJD with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Huang N,Marie SK,Kok F,Nitrini Rdoi
10.1590/s0004-282x2001000600017subject
Has Abstractpub_date
2001-12-01 00:00:00pages
932-5issue
4eissn
0004-282Xissn
1678-4227pii
S0004-282X2001000600017journal_volume
59pub_type
杂志文章abstract:OBJECTIVE:Heterotopic ossification (HO) is a complication of the spinal cord injury (SCI). It can result in anchylosis, harming the rehabilitation and quality of life. Previous publications had not elucidated the relation between possible independent variables, the aim of this study. METHOD:From 230 patients with SCI,...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2009000300002
更新日期:2009-06-01 00:00:00
abstract::Considering the genetical peculiarity of Charcot-Marie-Tooth's muscular atrophy, a family with three affected brothers was investigated, in which beginning date was discovered to be progressively antedated. Afterwards, this possible variant of anticipation is discussed, because such condition is quite ununsual, not on...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000200011
更新日期:1977-06-01 00:00:00
abstract::The case of a 24 years-old woman with weakness since the teens and progressive loss of muscle strength is reported. The muscle biopsy showed increased number of mitochondria. In two occasions the respiratory chain enzymes showed important reduction of the succinate-cytochrome-C-reductase, suggesting a possible defect ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1989000400013
更新日期:1989-12-01 00:00:00
abstract:Objective:The aim of this study was to evaluate the results of the endoscopic transsphenoidal technique for growth hormone (GH)-secreting adenomas. Methods:A retrospective analysis based on medical records of 23 acromegalic patients submitted to endoscopic transsphenoidal surgery. Biochemical control was defined as ba...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170035
更新日期:2017-05-01 00:00:00
abstract::Paroxysmal choreoathetosis (PC) is a rare entity, and professionals who study movement disorders do not find it easily. Paroxysmal occurrence of dystonic, choreic, athetosic movements is the typical feature of this syndrome. The onset is always subtle and the attacks can last from few seconds to hours. Sporadic cases ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1994000300022
更新日期:1994-09-01 00:00:00
abstract::Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is asso...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000100002
更新日期:2000-03-01 00:00:00
abstract::Myelomeningocele is the most common congenital malformation of the nervous system and despite its complexity and involvement of multiple organs is compatible with long survival. The peculiar characteristics of this malformation expose myelomeningocele patients to acute and chronic care problems with effects in quality...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract::There are few descriptions about middle-aged patients who have nonconvulsive status epilepticus, absence status. We reported the clinical case of a woman, 52-year-old, diabetic, referred to the emergency room in a confusional state. Initial electroencephalogram showed continuous typical, bilateral, symmetric and synch...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000400022
更新日期:1997-09-01 00:00:00
abstract::The pterional craniotomy is one of the most frequently surgical approaches used in neurosurgery and currently it has become a mainsteam. It allows excellent microsurgical exposure of anterior and posterior regions of the arterial circle of Willis, supra and paraselar regions, the superior orbital fissure of sphenoid b...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2010000300020
更新日期:2010-06-01 00:00:00
abstract::The use of anticoagulants and antiplatelet agents has largely increased. Diagnostic lumbar puncture in patients taking these drugs represents a challenge considering the opposing risks of bleeding and thrombotic complications. To date there are no controlled trials, specific guidelines, nor clear recommendations in th...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/0004-282X20160098
更新日期:2016-08-01 00:00:00
abstract::Thromboembolism is the most frequent complication in endovascular treatment of intracranial aneurysms, causing disability and death. As stent retrievers have achieved high rates of arterial recanalization in the management of ischemic stroke, these devices were tested as rescue therapy of thromboembolism during aneury...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20180027
更新日期:2018-05-01 00:00:00
abstract::A 45 years-old woman presented with loss of initiative and memory, motivated cry and behaviour disturbance with childish traits, quickly progressive along 6 months until total apathy. An EEG showed periodic activity with bilateral triphasic waves against a flattened background activity suggesting Creutzfeldt-Jacob dis...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1990000200019
更新日期:1990-06-01 00:00:00
abstract::We analyzed computerized tomography (CT) findings in six patients with Fahr's syndrome. They presented calcifications in basal ganglia, dentate nucleus, subcortical region and semioval center, due to alteration in calcium metabolism or due to senile relative hypoxemic state. The image pattern was not strictly related ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000500009
更新日期:2004-09-01 00:00:00
abstract::The purpose of this study was to investigate the prognostic value of the pretreatment and post-treatment albumin level, neutrophil-lymphocyte ratio (NLR), and platelet-lymphocyte ratio (PLR) in subtypes of Guillain-Barré syndrome (GBS). A retrospective analysis of 62 patients with GBS treated between 2011 and 2015 in ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20160132
更新日期:2016-09-01 00:00:00
abstract:UNLABELLED:Few studies have addressed early cerebrovascular lethality in Brazil. OBJECTIVE:To evaluate 10 and 28-day stroke case-fatality rates in three hospitals in three Brazilian cities. METHODS:We described the stroke registries in São Paulo, João Pessoa, and Natal. RESULTS:Out of a total of 962 first-ever event...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012001100009
更新日期:2012-11-01 00:00:00
abstract:UNLABELLED:The temporal branch of the facial nerve is particularly vulnerable to traumatic injuries during surgical procedures. It may also be affected in clinical conditions. Electrodiagnostic studies may add additional information about the type and severity of injuries, thus allowing prognostic inferences. The objec...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000400026
更新日期:2010-08-01 00:00:00
abstract::Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a peripheral nerve disorder probably due to an immunological disturb. It evolves either in a steadily progressive or in a relapsing and fluctuating course. Weakness is mainly in the lower limbs proximally and distally. The electromyography is demyelin...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000400021
更新日期:2005-09-01 00:00:00
abstract::Jean-Martin Charcot (1825-1893), recognized as the founder of Neurology and the first formal teacher of nervous system diseases, died on August 16, 1893, from acute pulmonary edema secondary to myocardial infarction. In his last years, there were several descriptions of his gait and posture disorders, suggesting the d...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/0004-282X20170007
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:Transcranial direct current stimulation (tDCS) has been investigated in movement disorders, making it a therapeutic alternative in clinical settings. However, there is still no consensus on the most appropriate treatment protocols in most cases, and the presence of deep brain stimulation (DBS) electrodes has...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20190019
更新日期:2019-03-01 00:00:00
abstract:UNLABELLED:This study was thought to characterized clinical and laboratory findings of a narcoleptic patients in an out patients unit at São Paulo, Brazil. METHOD:28 patients underwent polysomnographic recordings (PSG) and Multiple Sleep Latency Test (MSLT) were analyzed according to standard criteria. The analysis of...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000500007
更新日期:2010-10-01 00:00:00
abstract:OBJECTIVE:To determine the survival rate according to the main findings of emergency electroencephalography (EEGs) of patients treated in a tertiary hospital. METHOD:In this prospective study, the findings of consecutive emergency EEGs performed on inpatients in Hospital de Base in São José do Rio Preto, Brazil were c...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000200004
更新日期:2010-04-01 00:00:00
abstract::We report on 15 cases of medulloblastoma of adult onset (8 male and 7 female) operated upon posterior fossa approach from February 1988 to October 1995. Tumors were localized in cerebellar hemisphere in 7 cases (one with extension to supratentorial notch and another case reaching the cerebello-pontine angle cistern), ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000600014
更新日期:1999-12-01 00:00:00
abstract:PURPOSE:To evaluate with 1H-magnetic resonance spectroscopy (MRS) the metabolites rations of the foramen of Monro's region in patients with tuberous sclerosis complex (TSC). METHOD:Twelve patients with TSC and an age and gender-matched control group underwent MR imaging at a 1.5T scanner, and 1H-MRS at the foramen of ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2008000300003
更新日期:2008-06-01 00:00:00
abstract::True neurogenic thoracic outlet syndrome (TOS) is an uncommon disorder despite of be a frequent reason for referral to the EMG laboratories. We describe the second case in the literature of true TOS in a competitive swimmer with progressive weakness and severe atrophy of the left thenar eminence. EMG showed lower trun...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000700031
更新日期:2007-12-01 00:00:00
abstract::Using the clinical quantification of the neurologic symptomatology the authors made observations and avaliated the action of Ciba 34.647-Ba, a GABA derivative, in 12 patients suffering from spasticity and motor incapacity due to spinal cord lesions. The results are reported emphasizing the effects of the drug on the m...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000400008
更新日期:1977-12-01 00:00:00
abstract::There is substantial controversy in literature about human dermatomes. We studied L4, L5, and S1 inferior limb dermatomes by comparing clinical signs and symptoms with conduction studies, electromyographical data, neurosurgical findings, and imaging data from computerized tomography (CT) or magnetic resonance imaging ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2009000200017
更新日期:2009-06-01 00:00:00
abstract::A 61-year-old ex-boxer presented with a three-year history of progressive memory decline. During a seven-year follow-up period, there was a continuous cognitive decline, very similar to that usually observed in Alzheimer's disease. Parkinsonian, pyramidal or cerebellar signs were conspicuously absent. Neuropathologica...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000500019
更新日期:2007-09-01 00:00:00
abstract::Report of a girl with the epileptic, hydrocephalic and encephalitic form of neurocysticercosis, diagnosed by cerebrospinal fluid and computed tomography exams, during her second year of life and an evolution with multiple types of seizures, prolonged periods of intracranial hypertension due to obstruction in the ventr...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000300023
更新日期:2000-06-01 00:00:00
abstract::Lambert-Eaton myasthenic syndrome (LEMS) is an immune-mediated disorder of the presynaptic neuromuscular transmission, which more frequently occurs as the remote effect of a neoplasm, in the paraneoplastic form (P-LEMS), or in a non-paraneoplastic form (NP-LEMS); but few studies describe the clinical features of NP-LE...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000600004
更新日期:2010-12-01 00:00:00
abstract::A case of central nervous system histoplasmosis located at the pons is reported. The authors point out difficulties for the diagnosis of the pathology during life and some aspects of the treatment and their results. The rarity of the process is emphasized. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1984-12-01 00:00:00