Abstract:
:Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Smid J,Studart A Neto,Landemberger MC,Machado CF,Nóbrega PR,Canedo NHS,Schultz RR,Naslavsky MS,Rosemberg S,Kok F,Chimelli L,Martins VR,Nitrini Rdoi
10.1590/0004-282X20170049subject
Has Abstractpub_date
2017-06-01 00:00:00pages
331-338issue
6eissn
0004-282Xissn
1678-4227pii
S0004-282X2017000600331journal_volume
75pub_type
杂志文章abstract::The main objectives of this study are to evaluate the resistance rates of Streptococcus pneumonia to penicillin G, ceftriaxone and vancomycin in patients with meningitis; to analyze possible risk factors to the antimicrobian resistance; to describe the serotypes detected and to suggest an initial empirical treatment f...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2008000400014
更新日期:2008-09-01 00:00:00
abstract:UNLABELLED:Attention deficit hyperactivity disorder (ADHD) is a frequent condition in school-age children and commonly presents in comorbidity with other psychiatric diseases. In Brazil, there are few studies concerning non-clinical samples. PURPOSE:The present study aims to calculate the prevalence of this disorder a...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000600033
更新日期:2007-12-01 00:00:00
abstract::Headache is a common complaint with a high prevalence in ambulatory settings. The physical and neurological examinations are frequently normal. The use of questionnaires as a screening methods for patients with primary headache could facilitate the diagnosis in non-specialized medical centers. In the present study, we...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000300003
更新日期:1997-09-01 00:00:00
abstract::The temporal medial sclerosis (TMS) is characterized by hippocampal sclerosis in temporal and by distinguished grades of injury near to other neurological structures such as: amygdaloid nucleus, parahippocampal girus and entorhinal region. The study analyzed 40 patients with TMS and 40 people from the control cluster....
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000400023
更新日期:2006-09-01 00:00:00
abstract:UNLABELLED:Diagnosis of dementia is a challenge in populations with heterogeneous educational background. OBJECTIVE:To compare the accuracies of two delayed recall tests for the diagnosis of dementia in a community with high proportion of illiterates. METHOD:The delayed recall of a word list from the CERAD battery (D...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000100008
更新日期:2006-03-01 00:00:00
abstract::Leprosy neuropathy is characterized by initial involvement of the small nerve fibers, later followed by involvement of the large fibers, when routine nerve conduction studies become abnormal. To increase the diagnostic yield and precocity of these studies, we applied the near nerve technique to the sural nerve of 8 le...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000400001
更新日期:2004-09-01 00:00:00
abstract::Hypoxemia secondary to sleep apnea is commonly seen in patients with acromegaly, and this alteration apparently leads to considerable morbidity and mortality among such patients. With the objective of identifying hypoxemia based on clinical data, we conducted a cross-sectional study of 34 patients with acromegaly, all...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000200009
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVE:Correlate the occurrence of falls and the activity of rolling over in bed with performance on the Trunk Mobility Scale (TMS) in patients with PD, and determine whether this instrument score can predict the risk of falls. METHOD:This is a cross-sectional study. Assessed patients reported the frequency of fall...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20160074
更新日期:2016-07-01 00:00:00
abstract::The case of a male child with Russel's syndrome due to a pilocytic astrocytoma located in the diencephalic region is presented. The diagnosis was made in the 16th month of age, but symptoms began in the 4th months of life, when he started losing weight. By the time he was admitted weight was 6150g and he was 74cm tall...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1990000100016
更新日期:1990-03-01 00:00:00
abstract::Clear and dark satellite cell classes were identified by electron microscopy in the lumbar sensory ganglia of domestic fowl in 8 pre and 4 post-hatching stages of development. Some cytologic differences found between the two classes relating to the rough-endoplasmic reticulum, ribosomes, Golgi apparatus and junctional...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1988000100002
更新日期:1988-03-01 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 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::Four aspects of advances in inborn errors of metabolism (IEM) are analysed: 1) concerning the general comprehension of the pathogenesis, genic localization and genetic heterogeneity; 2) clinical aspects, with description of new variants of known IEM or new IEM; 3) laboratory diagnostic tests presently used in our coun...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1987000200011
更新日期:1987-06-01 00:00:00
abstract:Objective:Few donors are available for restoration of sensibility in patients with complete brachial plexus injuries. The objective of our study was to evaluate the anatomical feasibility of using the intercostobrachial nerve (ICBN) as an axon donor to the lateral cord contribution to the median nerve (LCMN). Methods:...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170073
更新日期:2017-07-01 00:00:00
abstract::The authors present a retrospective review of 13 patients with the diagnostic of intracranial metastatic malignant melanoma. Their ages ranged from 28 to 84 years. The time interval from diagnosis of primary tumor to development of cerebral metastases ranged from 6 to 60 months. There was preoperative evidence of extr...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000200018
更新日期:1997-06-01 00:00:00
abstract:OBJECTIVE:To compare gross motor development of preterm infants (PT) without cerebral palsy with healthy full-term (FT) infants, according to Alberta Infant Motor Scale (AIMS); to compare the age of walking between PT and FT; and whether the age of walking in PT is affected by neonatal variables. METHODS:Prospective s...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012000800007
更新日期:2012-08-01 00:00:00
abstract:BACKGROUND:Intrathoracic meningocele is a rare pathology, almost always associated with neurofibromatosis type I and with a few cases related in the literature. In the majority of cases cysts are small or asymptomatic, and the surgery is indicated when big or symptomatic cysts are present. We report a case of giant int...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2003000400029
更新日期:2003-09-01 00:00:00
abstract:Objective::To evaluate the microRNA-219 and NMDA expression in brain tissue and blood of animals subjected to cerebral ischemia associated with alcoholism. Methods::Fifty Wistar rats were divided into groups: control, sham, ischemic, alcoholic, and ischemic plus alcoholic. The expression of microRNA-219 and NMDA were ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20160188
更新日期:2017-01-01 00:00:00
abstract::We studied the clinical and evolution characteristics of multiple sclerosis (MS) patients followed since the onset of HUCFF/UFRJ in 1978. The diagnosis of MS was based on Poser's et al. and MC Donald's et al. criteria. From 188 patients, 122 were included. Eighty-five were females. The mean age onset was 32.2 years-ol...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2008000500012
更新日期:2008-09-01 00:00:00
abstract::Augmenting/reducing (A/R) of visual evoked potentials (VEP) has been repeatedly observed in central derivations, with some subjects increasing, and others decreasing, VEP amplitude with increasing intensity of stimulation. Central derivations also exhibit hemispheric lateralization regarding A/R. This paper explores c...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1988000300005
更新日期:1988-09-01 00:00:00
abstract::A 42 year-old woman developed paraplegia that resolved in six months, followed by sudden right hemiparesis and dysphasia two years later. The clinical work-up, including CT and MR scans, visual evoked potential, CSF examination and cerebral biopsy suggested the possibility of either multiple sclerosis or multiphasic d...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1996000300024
更新日期:1996-09-01 00:00:00
abstract::Subthalamic nucleus deep brain stimulation (STN-DBS) is a surgical technique to treat motor symptoms in patients with Parkinson's disease (PD). Studies have shown that STN-DBS may cause a decline in verbal fluency performance. We aimed to verify the effects of STN-DBS on the performance of phonemic verbal fluency in B...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170024
更新日期:2017-04-01 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 psychologist, Alfred Binet, who worked under the supervision of Prof. Charcot at the end of the 19th century, made several important contributions to neuropsychology, in partnership with Théodore Simon. Most notable among these was the development of intelligence testing scales. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/0004-282X20170097
更新日期:2017-09-01 00:00:00
abstract::Neurocysticercosis is a serious public health problem that predominantly affects places with poor sanitary and hygiene conditions. The Piaui State is out of the neurocysticercosis map in Brazil but, as this study illustrates, it is just by lack of epidemiologic data. We demonstrate the presence of this pathology in th...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000200030
更新日期:2006-06-01 00:00:00
abstract:UNLABELLED:West syndrome (WS) is a severe epileptic encephalopathy of childhood, characterized by spasms, developmental deterioration and hipsarhythymia. OBJECTIVE:To evaluate the safety and efficacy of vigabatrin (VGB) in the treatment of WS. METHOD:We evaluated every patient diagnosed with WS seen at the pediatric ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000300019
更新日期:2005-06-01 00:00:00
abstract::We report a case of Streptococcus pyogenes meningitis in a 18 days year-old-girl with clinical course complicated by sagittal sinus thrombosis. Some aspects of the pathogenesis, treatment and follow-up of the disease are discussed. The world increase of serious streptococcal infections in the last 10 years, probably w...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000500021
更新日期:1998-12-01 00:00:00
abstract:PURPOSE:To assess the outcome of patients with epilepsy treated at primary care health units under the framework of the demonstration project on epilepsy in Brazil, part of the WHO/ILAE/IBE Global Campaign Against Epilepsy. METHOD:We assessed the outcome of patients treated at four primary health units. The staff of t...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007001000010
更新日期:2007-06-01 00:00:00
abstract::A case of an isolated tuberculoma of the spinal cord is reported. The 22 years old male patient came to the hospital with paraplegia and had a laminetomy performed for a compression of the spinal cord by a tumor mass. The histopathological study showed the presence of the acid-fast bacili in the tissue. After specific...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1978000100010
更新日期:1978-03-01 00:00:00
abstract:OBJECTIVE:To study the white matter of patients with multiple sclerosis (MS) with diffusion tensor magnetic resonance (MR) imaging (DTI). METHOD:Forty patients with clinical-laboratorial diagnosis of relapsing-remitting MS and 40 age- and sex-matched controls, who underwent conventional and functional (DTI) MR imaging...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000400002
更新日期:2007-09-01 00:00:00