Abstract:
:Neurodegenerative tauopathies may be inherited as autosomal-dominant disorders with variable clinicopathological phenotypes, and causative mutations in the microtubule-associated protein tau (MAPT) gene are not regularly seen. Herein, we describe a patient with clinically typical and autopsy-proven corticobasal degeneration (CBD). Her mother was diagnosed to have Parkinson's disease, but autopsy showed CBD pathology as in the index patient. The sister of the index patient had the clinical symptoms of primary progressive aphasia (PPA), but no pathology was available to date. Molecular analysis did not reveal any mutation in the MAPT or progranulin (GRN) genes. Our findings illustrate that CBD, progressive supranuclear palsy and PPA may be overlapping diseases with a common pathological basis rather than distinct entities. Clinical presentation and course might be determined by additional, yet unknown, genetic modifying factors.
journal_name
Eur Neuroljournal_title
European neurologyauthors
Jung HH,Bremer J,Streffer J,Virdee K,Spillantini MG,Crowther RA,Brugger P,Van Broeckhoven C,Aguzzi A,Tolnay Mdoi
10.1159/000334731subject
Has Abstractpub_date
2012-01-01 00:00:00pages
142-50issue
3eissn
0014-3022issn
1421-9913pii
000334731journal_volume
67pub_type
杂志文章abstract:BACKGROUND:Most of the previously described pathogenic mutations in desmin are located in highly conserved α-helical domains that play an important role in intermediate filament assembly. The role of the C-terminus non-α-helical 'tail' domain is much less investigated and until recently mutations in this domain have be...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000341617
更新日期:2012-01-01 00:00:00
abstract::Direct evidence of the anatomical localization of brain function is provided by functional neurological changes during awake surgery combined with data from preoperative functional magnetic resonance imaging and diffusion tensor imaging studies. The goal of the present study was to analyze the etiology and mechanism o...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000258636
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVES:Little is known about optic radiation (OR) injury in intracerebral hemorrhage (ICH). We attempted to investigate OR injury in patients with ICH by diffusion tensor imaging (DTI). METHODS:Forty-three consecutive patients with putaminal hemorrhage and 40 normal healthy control subjects were recruited. DTI dat...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000345271
更新日期:2013-01-01 00:00:00
abstract::Lumbar CSF concentrations of homovanillic acid (HVA) and 5-hydroxyindole-acetic acid (5HIAA) have been determined in ten patients suffering from chronic brain post-traumatic syndromes, at various length of time after the brain trauma. Lower concentrations of HVA (mean 21 +/- 14 mug/ml) compared to controls (mean 46 +/...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114709
更新日期:1975-01-01 00:00:00
abstract::The European Association of Young Neurologists and Trainees (EAYNT) is a non-profit organization which acts on behalf of young neurologists in Europe and concertedly exerts influence on the formation of a new generation of neurologists [Struhal et al.: Eur J Neurol 2009;16:e146-e148]. This concerns particularly the Ge...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000327696
更新日期:2011-01-01 00:00:00
abstract::Long-term development of psychological deficits in disability-free early multiple sclerosis (MS) was evaluated in 27 female patients over a period of 7 years and compared with healthy controls. Physical and cognitive parameters deteriorated significantly but not depression scores. In particular, the self-assessed soma...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000079937
更新日期:2004-01-01 00:00:00
abstract::Diplopia, blurred vision and colour disturbances are well-known side effects associated with anti-epileptic drugs (AEDs). Farnsworth-Munsell 100-hue colour test (F-100) is an accepted and sensitive tool to detect changes in colour perception. To determine the impact of AEDs upon colour vision, we evaluated 37 consecut...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000008051
更新日期:1999-01-01 00:00:00
abstract::The objective of this work was to precisely analyse the reduction of the antiparkinsonian treatment in 18 consecutive patients with Parkinson's disease (PD) operated on for bilateral subthalamic nucleus (STN) stimulation, first after 1 month of follow-up, then at 1 year postoperatively. Trihexyphenidyle, selegiline, e...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000067028
更新日期:2003-01-01 00:00:00
abstract::The clinical severity of EAE is enhanced by pre-treatment with distemper, measles and BCG vaccine, measles vaccine gives a more severe onset of disease. Rubella vaccine and TAB leads to mild disease which recurs on re-treatment with the appropriate vaccine. These findings and their possible significance in MS are brie...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114898
更新日期:1977-01-01 00:00:00
abstract:OBJECTIVE:To assess the Multiple Sclerosis Neuropsychological Questionnaire (MSNQ) in patients with clinically isolated syndrome (CIS). METHODS:130 European CIS patients and 60 relatives completed the MSNQ. RESULTS:The mean (SD) MSNQ score for CIS patients was 15.5 (10.8) and for their informants 11.3 (9.6). Neither ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000345698
更新日期:2013-01-01 00:00:00
abstract::Percussion of the skull dates from a time when there were virtually no radiological methods for examining the skull and brain. Three apparently independent contributions appeared within the years 1893-1895. The sound elicited, tenderness, and auscultatory percussion have each been employed for diagnostic purposes, but...
journal_title:European neurology
pub_type: 历史文章,杂志文章
doi:10.1159/000115645
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:To examine the therapeutic effect of intravenous recombinant tissue plasminogen activator (rt-PA) therapy for stroke patients receiving maintenance hemodialysis (HD). methods: Of 600 stroke patients receiving intravenous rt-PA using 0.6 mg/kg alteplase who were enrolled in a multicenter observational study i...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000328792
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:The pathogenesis of card game-induced reflex epilepsy has not been determined so far. The aim of this study was to evaluate structural abnormalities using voxel-based morphometry (VBM) analysis, which may give some clue about the pathogenesis in card game-induced reflex epilepsy. METHODS:The 3 subjects were...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000447537
更新日期:2016-01-01 00:00:00
abstract::Cavernomas are vascular malformations mostly observed in the central nervous system. They occur in sporadic and familial forms. Familial forms are characterized by the presence of multiple lesions, an autosomal dominant pattern of inheritance and possible de novo lesions. We report two sporadic cases whose follow-up s...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000052100
更新日期:2001-01-01 00:00:00
abstract::26 adult epileptic patients with diffuse slow spikes and waves and start of seizures after the age of 6 years were analyzed. The seizure spectrum encompasses generalized and focal seizures. The occurrence of several types of seizures is the rule. Epileptic drop attacks are most characteristic. Atonic, tonic and myoclo...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115581
更新日期:1983-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Antioxidant enzymes like copper/zinc superoxide dismutase (SOD), catalase and gluthatione peroxidase (GSHPx) are part of intracellular protection mechanisms to overcome oxidative stress and are known to be activated in vascular diseases and acute stroke. We investigated the differences of antioxi...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000077662
更新日期:2004-01-01 00:00:00
abstract::Prealbumin, was determined in serum, lumbar and ventricular cerebrospinal fluid (CSF) and compared with albumin and IgG. The measured concentrations of prealbumin in the CSF indicate that there are two sources of prealbumin: a minor fraction enters the CSF via the blood-cerebrospinal fluid (B-CSF) barrier like albumin...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115544
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVES:To evaluate the diagnostic yield of nerve biopsy in patients with peripheral neuropathy of undetermined cause despite extensive diagnostic workup. METHODS:From November 2001 through January 2004, 38 patients underwent nerve biopsy because of unclassified neuropathy. RESULTS:The etiology of the neuropathies...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000098057
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Assessing collateral status is important in acute ischemic stroke. The purpose of this study was to compare multiphasic perfusion computed tomography (MPCT) with digital subtraction angiography (DSA) in predicting leptomeningeal collateral flow in acute middle cerebral artery (MCA) infarction. METHODS:Conse...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000334867
更新日期:2012-01-01 00:00:00
abstract::Although repetitive transcranial magnetic stimulation (rTMS) for hemiparesis is beneficial, so far no study has examined the usefulness of rTMS for apathy. Thirteen patients with chronic stroke were assigned randomly to 2 groups: rTMS group (n = 7) and sham stimulation group (n = 6). The patients received 5 sessions o...
journal_title:European neurology
pub_type: 杂志文章,随机对照试验
doi:10.1159/000477440
更新日期:2017-01-01 00:00:00
abstract::Serum from patients with multiple sclerosis (MS) and other diseases was added to the medium perfusing isolated hemisected frog spinal cord, and the effect on ventral root responses (VRR) tested. As control, a standardized commercial human serum (Moni-trol I) was used. In 25 out of 40 spinal cord preparations Moni-trol...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114824
更新日期:1977-01-01 00:00:00
abstract::About one third of patients with newly diagnosed epilepsy do not achieve seizure control despite medical therapy and should be assessed in detail to confirm the diagnosis, to determine the epilepsy syndrome and to plan treatment strategy. Refractory epilepsy is established when there is inadequate seizure control desp...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000222775
更新日期:2009-01-01 00:00:00
abstract:AIMS:To perform a large and detailed epidemiologic study on restless legs syndrome (RLS) during pregnancy in a European country. METHODS:A cross-sectional questionnaire survey. The questionnaire was distributed by the medical staff in different outpatient waiting rooms (obstetrics and gynecology department of the univ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000321413
更新日期:2010-01-01 00:00:00
abstract::A critical analysis of cases of systemic lupus erythematosus (SLE) and chorea is presented. Choreatic movements occurred early in the course of the disease in most cases; the duration varied from several days to 3 years. No sex predominance was found and no relationship could be demonstrated between chorea and other n...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115743
更新日期:1984-01-01 00:00:00
abstract::The role of genetics in Parkinson's disease (PD), previously controversial, is now documented by several studies. A major breakthrough has been the discovery of two single-gene defects in familial PD. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the alpha-synuclein gene has been ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000008203
更新日期:2000-01-01 00:00:00
abstract::Leonardo da Vinci clearly observed and described capillaries. Using the microscope, Marcello Malpighi examined the brain and major organs to demonstrate their finer anatomical features. This led to his discovery in 1661, of capillaries that proved fundamental to our understanding of the vascular system in the brain an...
journal_title:European neurology
pub_type: 传,历史文章,杂志文章
doi:10.1159/000107974
更新日期:2007-01-01 00:00:00
abstract::We examined interleukin-2 (IL-2) production by phytohemagglutinin (PHA)-stimulated peripheral blood mononuclear cells (PBMs) from 75 untreated myasthenia gravis (MG) patients and 48 control patients. Patients with MG consisted of those with elevated PBM IL-2 production (>1,250 pg/ml; mean + 2SD of the controls) (n = 2...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000069079
更新日期:2003-01-01 00:00:00
abstract::31 children aged between 6 weeks and 15 years, who had suffered a stroke, were investigated by computer tomography (CT). 8 patients had suffered transient ischemic attacks (TIA), 17 had completed ischemic strokes and 6 had hemorrhagic strokes. The mean interval between the stroke and the first CT investigation was 5 d...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115486
更新日期:1982-01-01 00:00:00
abstract::Blood samples from 45 cases of subacute sclerosing panencephalitis in Israel were tested for the presence of antibodies to Epstein-Barr virus capsid antigen and early antigen by the indirect immunofluorescence method. Significantly higher titers were found in patients as compared to healthy controls with higher titers...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114697
更新日期:1975-01-01 00:00:00
abstract::A randomized, double-blind trial on the effects of GM1 ganglioside in cerebrovascular diseases was done on 40 patients; the treatment (40 mg/day i.m. injection) began after the acute phase and lasted 6 weeks. 18 cases took the drug and 16 the placebo. The evaluation of the cases was made by graduating the severity of ...
journal_title:European neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000115823
更新日期:1985-01-01 00:00:00