Abstract：
:Five French families with Creutzfeldt-Jakob disease (CJD) were found to have either of 2 different point mutations (at codons 178 and 200) in the amyloid precursor gene (PRNP) on chromosome 20. The ancestry of these and other CJD families outside of France suggests that the codon 178 mutation had a northern European origin, while the codon 200 mutation originated in central Europe and the Mediterranean basin. Evidence is presented that the mutations either cause or predispose to familial forms of CJD, and also influence their phenotypic expression, although considerable clinical and neuropathological heterogeneity may occur between and even within families having the same mutation. Experimental transmission of disease was successful in 4 of 5 inoculated cases, comparable to the transmission rate in sporadic CJD.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Brown P,Goldfarb LG,Cathala F,Vrbovská A,Sulima M,Nieto A,Gibbs CJ Jr,Gajdusek DCdoi
10.1016/0022-510x(91)90151-vsubject
Has Abstractpub_date
1991-10-01 00:00:00pages
240-6issue
2eissn
0022-510Xissn
1878-5883pii
0022-510X(91)90151-Vjournal_volume
105pub_type
杂志文章abstract：:In recent years it has become clear that multiple sclerosis (MS) patients benefit from physical exercise as performed in aerobic training but little is known about the effect on functional domains and physiological factors mediating these effects. We studied immunological, endocrine and neurotrophic factors as well as...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2004.06.009
更新日期：2004-10-15 00:00:00
abstract：:Thalamic damage is associated with a variety of neuropsychological dysfunctions, as well as strategic infarct dementia. However, only a limited number of reports in the medical literature have discussed the correlation between the clinical findings and the specific functional changes observed on images. We investigate...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.09.016
更新日期：2008-03-15 00:00:00
abstract：BACKGROUND:The accumulation of toxic free radicals plays a pivotal role in the early molecular cascades of blood-brain barrier (BBB) disruption mediated by matrix metalloproteinases (MMPs) activation in ischemic stroke. Theoretically, it is expected that early blockade of activation of MMPs may provide protective effec...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.09.021
更新日期：2012-12-15 00:00:00
abstract：:A common cause of nerve cell death often leading to vascular dementia is ischemic stroke. Attempts to develop clinically effective stroke treatment and prevention strategies based on pharmacological manipulations of a single mechanism have not led to clinical success. Analysis of clinical neuroprotection trials sugges...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2004.11.028
更新日期：2005-03-15 00:00:00
abstract：:The p53-related p73 protein is an important mediator of apoptosis, development and tumorigenesis. Previously, we showed that over-expression of the p73beta isoform induced apoptosis in proliferating neuronal cells; however, the study did not address the effect of p73 in post-mitotic neurons. To address this question, ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.08.012
更新日期：2006-01-15 00:00:00
abstract：BACKGROUND:Parkinson's disease (PD) and multiple system atrophy (MSA) are neurodegenerative diseases that can be difficult to diagnose and distinguish from each other. STUDY AIMS AND METHODS: Patients with PD and MSA and controls were studied with magnetic resonance imaging (MRI) using tissue segmentation and outlining...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.07.013
更新日期：2005-12-15 00:00:00
abstract：:There is evidence that visuo-spatial capacity can become overloaded when processing a secondary visual task (Dual Task, DT), as occurs in daily life. Hence, we investigated the influence of the visuo-spatial interference in the identification of emotional facial expressions (EFEs) in early stages of Parkinson's diseas...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.09.041
更新日期：2012-02-15 00:00:00
abstract：OBJECTIVES:Ultra high field MRI at 7T is able to provide much improved spatial and contrast resolution which may aid in the diagnosis of hippocampal abnormalities. This paper presents a preliminary experience on qualitative evaluation of 7T MRI in temporal lobe epilepsy patients with a focus on comparison to histopatho...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.07.066
更新日期：2016-10-15 00:00:00
abstract：:To elucidate a possible role of vitamin A in the pathogenesis of Parkinson's disease (PD) we compared serum levels of retinol (vitamin A), measured by HPLC, and the vitamin A/retinol binding protein (RBP) ratio of 42 PD patients (22 males and 20 females, mean age 67.3 +/- 1.34 years) and their respective spouses as co...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90114-z
更新日期：1992-08-01 00:00:00
abstract：:Structural alterations of endoneurial microvessels occur in diabetic neuropathy and are statistically associated with severity of nerve fiber loss and teased fiber abnormality. It is therefore hypothesized that the microvessel alterations may cause or contribute to pathologic alterations of nerve fibers in diabetic ne...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90197-u
更新日期：1990-10-01 00:00:00
abstract：:We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.06.007
更新日期：2013-09-15 00:00:00
abstract：:Neocortical lesions (NLs) are an important component of multiple sclerosis (MS) pathology and may account for part of the physical and cognitive disability. Visualizing NLs of patients with MS using magnetic resonance imaging (MRI) poses several significant challenges. We optimized the inversion time (TI) of T(1)-base...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.03.021
更新日期：2009-07-15 00:00:00
abstract：:Genetic linkage studies have provided evidence for a late-onset Alzheimer's disease (AD) susceptibility locus on chromosome 21q. We have tested, in a two-stage association study, whether allelic or haplotype variation of the beta-amyloid cleaving enzyme-2 (BACE2) locus on chromosome 21q affects the risk of late-onset ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2005.04.008
更新日期：2005-09-15 00:00:00
abstract：:In a prospective study, we analysed the presence of monoclonal immunoglobulin (moIg) in the serum from 30 patients with amyotrophic lateral sclerosis (ALS) and 30 matched controls using a sensitive Western blot technique. The incidence of serum moIg was 60% in the ALS group and 13.3% in the control group. Most ALS ser...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90220-2
更新日期：1991-07-01 00:00:00
abstract：INTRODUCTION:The underlying pathophysiology of neurological complications in patients with hemolytic-uremic syndrome (HUS) remains unclear. It was recently attributed to a direct cytotoxic effect of Shiga toxin 2 (Stx2) in the thalamus. Conventional MRI of patients with Stx2-caused HUS revealed - despite severe neurolo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.06.045
更新日期：2015-09-15 00:00:00
abstract：OBJECTIVE:To validate a semi-automated computer approach for the assessment of the degree of carotid artery luminal narrowing by comparing it to the visual evaluation by a neuroradiologist. STUDY DESIGN AND MAIN OUTCOME MEASURES:In a retrospective cross-sectional study, consecutive emergency department patients who un...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.12.023
更新日期：2008-06-15 00:00:00
abstract：:Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A with an underlying duplication in the ge...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.03.008
更新日期：2009-06-15 00:00:00
abstract：:Zika virus infection represents a new neuropathological agent with association to a wide spectrum of neurological complications: a) Congenital Zika Syndrome by affecting the neural stem cells of the human fetal brain; b) Guillain-Barré Syndrome by an autoimmune response against peripheral myelin and/or axonal componen...
journal_title：Journal of the neurological sciences
pub_type： 社论
doi：10.1016/j.jns.2017.10.046
更新日期：2017-12-15 00:00:00
abstract：:Reversible cerebral vasoconstriction syndromes are characterized by prolonged but reversible vasoconstriction of the cerebral arteries, presenting typically with thunderclap headache, with or without focal neurological signs or symptoms. They resemble primary central nervous system vasculitis but it is critical to dif...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.08.034
更新日期：2009-01-15 00:00:00
abstract：:Plasma-induced release of platelet-serotonin and Met-enkephalin was studied by incubating platelets from migraineurs, tension headache patients and healthy volunteers with water, plasma collected during migraine attacks and with plasma collected during attack-free periods. Migraine-attack plasma, but not migraine atta...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90160-3
更新日期：1989-10-01 00:00:00
abstract：INTRODUCTION:TCS is a well-established technique for diagnosis of Parkinson's disease (PD). Volumetric 3D-TCS is a promising complementary approach for objective acquisition and analysis, in particular for less experienced sonographers. This study provides baselines for Parkinson detection (sensitivity and specificity)...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.12.001
更新日期：2019-02-15 00:00:00
abstract：:To evaluate the association between the tumor necrosis factor beta (TNF-β) NcoI polymorphism and inflammatory and metabolic markers in patients with multiple sclerosis (MS) patients and the association of these markers with disease disability, a 782 base-pair fragment of the TNF-β gene was amplified from genomic DNA a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.08.016
更新日期：2014-11-15 00:00:00
abstract：OBJECTIVES:To examine the relationship between homeostatic model of insulin resistance (HOMA-IR) and cognitive test performance among population≥60years in a national database. HYPOTHESIS:Higher insulin resistance is associated with lower cognitive test performance score in the population≥60years. PARTICIPANTS:We ana...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.11.031
更新日期：2018-05-15 00:00:00
abstract：:Drivers with cognitive impairment are at increased odds for vehicular crashes. Rear-end collisions (REC) are among the most common crash types. We tested REC avoidance in 61 drivers with mild Alzheimer's disease (AD) and 115 elderly controls using a high-fidelity interactive driving simulator. After a segment of uneve...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.08.011
更新日期：2006-12-21 00:00:00
abstract：BACKGROUND:Ifosfamide is an alkylating agent useful in the treatment of a wide range of cancers including sarcomas, lymphoma, gynecologic and testicular cancers. Encephalopathy has been reported in 10-40% of patients receiving high-dose IV ifosfamide. OBJECTIVE:To highlight the role of electroencephalogram (EEG) in th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.10.018
更新日期：2014-01-15 00:00:00
abstract：OBJECTIVE:To provide an improved method for the identification and analysis of brain tumors in MRI scans using a semi-automated computational approach, that has the potential to provide a more objective, precise and quantitatively rigorous analysis, compared to human visual analysis. BACKGROUND:Self-Organizing Maps (S...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.10.032
更新日期：2015-12-15 00:00:00
abstract：:Electron-microscopic X-ray microanalysis has been used to compare elemental concentrations in specific organelles in normal and diseased human muscle. An elevated calcium to phosphorus ratio has been found in both myonuclei and interstitial cell nuclei in diseased muscle compared with controls. Preliminary observation...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90129-0
更新日期：1977-09-01 00:00:00
abstract：:Recent studies have demonstrated that cytokines play an important role in the pathogenesis of intracranial aneurysms (IAs). Interleukin-6 (IL-6) is an important proinflammatory cytokine. In our study, we investigated the association of genetic variants within the gene encoding interleukin-6-572G/C (IL-6-572G/C) with I...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.03.036
更新日期：2011-07-15 00:00:00
abstract：:We describe a patient presenting with vertical one-and-a-half syndrome and concomitant contralesional horizontal gaze paresis as the result of a solitary neurocysticercosis (NCC) lesion in the right midbrain extending into the thalamomesencephalic junction. The patient received an albendazole-dexamethasone course whic...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.08.022
更新日期：2012-12-15 00:00:00
abstract：:The nosological relationship between Bickerstaff s brainstem encephalitis (BBE) and Guillain-Barre syndrome (GBS) has yet to be clarified. We report results of the autopsy of a patient for whom overlapping BBE and GBS was diagnosed clinically. This and similar cases support the original authors' hypothesis that BBE is...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)00251-1
更新日期：1997-01-01 00:00:00
