Abstract:
BACKGROUND:This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the ubiquitin-protein-ligase E3A gene on maternal chromosome 15. SUMMARY:A retrospective analysis of data from six adults patients with clinical, electroencephalographic and genetic confirmation of AS was performed. Movement disorders of the hands and mouth, laughing spells, severe expressive speech disorders, a happy nature, hyposomnia and anxiety are the major neurological characteristics of AS in adulthood. Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood. Epilepsy, one of the most frequent symptoms in childhood and in adulthood, is characterised by specific electroencephalographic patterns. Key Messages: These clinical characteristics are important to improve the clinical awareness and genetic diagnosis of AS. Clinicians must be better informed concerning the adult phenotype as it is not well described in the literature. We stress the importance of AS as one of the main causes of intractable epilepsy. The authors suggest frontal and cerebellar dysfunction. Further functional cerebral imaging studies are necessary.
journal_name
Eur Neuroljournal_title
European neurologyauthors
Giroud M,Daubail B,Khayat N,Chouchane M,Berger E,Muzard E,Medeiros de Bustos E,Thauvin-Robinet C,Faivre L,Masurel A,Darmency-Stamboul V,Huet F,Béjot Y,Giroud M,Moulin Tdoi
10.1159/000369454subject
Has Abstractpub_date
2015-01-01 00:00:00pages
119-25issue
1-2eissn
0014-3022issn
1421-9913pii
000369454journal_volume
73pub_type
杂志文章abstract::Don Quixote de la Mancha, which is considered one of the most important and influential works of Western modern prose, contains many references of interest for almost all of the medical specialties. In this regard, numerous references to neurology can be found in Cervantes' immortal work. In this study, we aimed to re...
journal_title:European neurology
pub_type: 传,历史文章,杂志文章
doi:10.1159/000341338
更新日期:2012-01-01 00:00:00
abstract::The efficacy and safety of sumatriptan, a selective 5-HT1-like receptor agonist, were studied in a randomized, double-blind, placebo-controlled, parallel-group, multicentre, multinational clinical trial of 235 patients suffering a moderate to severe migraine attack. Patients were randomized to treat a single migraine ...
journal_title:European neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1159/000116760
更新日期:1991-01-01 00:00:00
abstract::It is generally believed that a homonymous defect of macular vision (HMV) is caused by a small lesion restricted to the occipital lobe tip and rarely results from ischemic stroke. The incidence of HMV was studied retrospectively in 54 patients with infarction of the posterior cerebral artery territory who underwent Go...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000050785
更新日期:2001-01-01 00:00:00
abstract::The pathogenesis of primary degenerative dementia is still unknown and current therapeutic approaches can aim only at ameliorating some of the symptoms associated with this brain disease. At present, most approaches, attempt to correct a cholinergic deficit. Although the therapeutic benefits obtained so far with curre...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000116479
更新日期:1989-01-01 00:00:00
abstract::In a group of 60 patients of which 30 were affected by myasthenia, we used the regional curare test. The results were evaluated from a critical point of view and were then compared with the results obtained by the repetitive stimulation of the circumflex nerve, deriving from deltoid muscle. We considered too the speci...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114813
更新日期:1977-01-01 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: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::4 cases with an identical neuromuscular disorder are presented. The disorder was characterized by slowly progressive weakness and wasting of the proximal muscles together with either ocular or bulbar symptoms, fatigability, positive tensilon test, myasthenic response on repetitive nerve stimulations, elevated serum cr...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115454
更新日期:1982-01-01 00:00:00
abstract::A 20-year-old woman with Kearns-Sayre syndrome (KSS) suddenly experienced two episodes of diabetic coma. She was studied to determine whether diabetes mellitus (DM) resulted from insulin resistance or from an insulin secretion abnormality, using the euglycemic glucose clamp technique and the glucagon tolerance test. S...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000116225
更新日期:1988-01-01 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:BACKGROUND:The meningitides are rare but well-identified complications in patients with systemic lupus erythematosus (SLE). AIMS:To determine the clinical characteristics, risk factors, prevalence and outcomes of the meningitides (septic and aseptic) in patients with SLE. PATIENTS AND METHODS:From January 1988 to Dec...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000186504
更新日期:2009-01-01 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::Although multifocal motor neuropathy (MMN) is now recognized as a distinct, albeit rare, neurological condition, the path to its recognition was long and winding. This article provides an insight into the medical history of MMN "patient zero" and the first scientific publication that led to the recognition of MMN by t...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000511732
更新日期:2020-11-11 00:00:00
abstract::This study investigates the remote effects of botulinum toxin injections by examining the motor unit architecture of noninjected distant muscles. In 21 dystonia patients treated with botulinum toxin (n = 11, mean cumulative dose = 815 mU; n = 10, mean cumulative dose = 7,207 mU) and 10 control individuals, a blinded s...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000008222
更新日期:2000-01-01 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::The aim of this study was to assess the impact of cardiac autonomic derangement on gender-associated functional outcome of patients with subacute ischemic stroke undergoing a hospital-based rehabilitation program. The study population included 126 consecutive first-ever stroke survivors (mean age 59.7 +/- 11.6 years)....
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000287583
更新日期:2010-01-01 00:00:00
abstract::The importance of patent foramen ovale (PFO) has long been discussed in the literature in relation to different coexisting medical conditions. Many researchers focused on the occurrence of PFO in ischemic stroke patients, especially in the subgroup of young patients with a recurrent event. Unfortunately, before establ...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000342900
更新日期:2013-01-01 00:00:00
abstract::18F-Dopa positron emission tomography (PET) provides a sensitive means of quantitating the loss of nigrostriatal dopaminergic fibres in Parkinson's disease and so can be used to diagnose its presence and to objectively follow the rate of disease progression. It can also be used, in principle, to determine the efficacy...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000113473
更新日期:1997-01-01 00:00:00
abstract::The therapeutic efficacy of Madopar HBS was investigated in 5 patients with advanced parkinsonism. They were under treatment with standard Madopar and suffered from marked fluctuations, mainly end-of-dose akinesia. All patients were abruptly switched from standard Madopar to the HBS formulation. For the first few days...
journal_title:European neurology
pub_type: 临床试验,杂志文章
doi:10.1159/000116198
更新日期:1987-01-01 00:00:00
abstract::Automatic analysis of EMG (T/A analysis) and invasive muscle fiber conduction velocity in situ (MFCV) were performed in 15 patients after traumatic lesions of the knee and immobilization with quadriceps atrophy. T/A analysis showed transient reduced number of turns, consistent with inhibition of quadriceps motoneurons...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000008145
更新日期:2000-01-01 00:00:00
abstract::Embolism from the aneurysmal sac is a rare but possible manifestation of intracranial aneurysm; thrombus formation is probably related to the combined action of turbulent flow and a 'stagnant zone'. Three cases are presented: 2 with giant aneurysms (1 internal carotid and 1 sylvian) and 1 with a large aneurysm of the ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000116824
更新日期:1992-01-01 00:00:00
abstract::The aim of this study was to investigate whether the side and location of single small infarcts (< or = 3 cm) in the corona radiata (28 patients) and pontine base (36 patients) influence the incidence of contralateral upper or lower limb paresis and dysarthria. While the severity of contralateral limb paresis was not ...
journal_title:European neurology
pub_type: 临床试验,杂志文章
doi:10.1159/000117290
更新日期:1996-01-01 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::Seventy-eight asymptomatic HIV-seropositive (aHIV) subjects were examined by means of an extensive neuropsychological test battery in comparison with 32 HIV-seronegative controls. They were also tested with regard to CD4+ and serum p24 antigen. Fifty-six of them completed a clinical follow-up of 12 up to 36 months and...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000117228
更新日期:1996-01-01 00:00:00
abstract::The purpose of this pilot study was to determine whether 20 mg oral 311C90 can prevent the development of migraine headache when taken during the aura phase of a migraine attack. The study also aimed to provide an initial safety profile for 311C90 when taken during the aura. Forty patients (31 females, 9 males) were e...
journal_title:European neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1159/000119101
更新日期:1996-01-01 00:00:00
abstract::The purpose of this study was to evaluate the contribution of the postsynaptic mechanism to the development of motor fluctuation in advanced Parkinson's disease (PD). We used 123I-iodobenzamide single-photon emission computed tomography to measure the striatal dopamine D2 receptor densities in early levodopa-naïve PD,...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000047962
更新日期:2002-01-01 00:00:00
abstract::In the fast moving field of muscular dystrophy, therapeutic matters are now high on the agenda. Despite little progress made in the understanding of the exact pathogenesis, hopes have been raised with the advent of molecular medicine applied to such disorders. A constellation of techniques or therapeutic solutions are...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000008150
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:The diagnosis of Guillain-Barre syndrome (GBS) in the very early stage may be challenging. Our aim was to report the neurophysiological abnormalities in GBS within 4 days of clinical onset. We expected that GBS will be diagnosed by the assistance of neurophysiological study in the very early stage. METHODS:We ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000494261
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Focal embouchure dystonia (FED) is a type of task-specific dystonia affecting wind instrument players, and it frequently ends their professional careers. The results of the treatments of FED in the reported literature are disappointing. OBJECTIVE:We report 3 patients with FED who were brass instrument playe...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000329578
更新日期:2011-01-01 00:00:00
abstract::Two cases of malignant tumours of the nerve sheaths are reported. In the first patient, who had von Recklinghausen's disease, light- and electron-microscopic investigations showed an undifferentiated mesenchymal tumour of the radial nerve with the property of producing collagen fibres, an aspect characteristic of sarc...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114873
更新日期:1977-01-01 00:00:00