Abstract:
BACKGROUND:Clinical presentation and DYT1 status amongst Chinese patients with primary dystonia have not been well studied. METHODS:One hundred and twenty patients with primary dystonia from South-West China were studied in a prospective survey for 3.5 years. Severity and the resulting disability were assessed using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS). Health related quality of life (HRQL) was measured through the 36-item short-form (SF-36). The Hospital Anxiety and Depression Scale (HADS) was utilized to identify and quantify depression and anxiety. Mutations in the DYT1 exon 5 were screened by direct sequencing. RESULTS:Cervical dystonia was found to be the most frequent form of focal dystonia and was discovered to occur at an early age. Pain and tremor were the common associated symptoms. Family history was positive in 19.5% of the cases, with a trend of earlier onset. Depression (14.5%) and anxiety (6.6%) were the main HRQL impairments. Multiple linear regression analysis suggested that gender, depression, anxiety and functional disability were amongst the principal determinants of lower HRQL. Only one instance of DYT1 GAG deletion (1.4%) was detected in 71 patients. CONCLUSION:Our data on a cohort of Chinese patients show some difference from descriptions in other ethnic groups. This includes an earlier age of onset, a lower incidence of depression and female serving as a predictor factor of a HRQL. Similar to other cohorts, DYT1 gene mutations are rare.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Zhang SS,Fang DF,Hu XH,Burgunder JM,Chen XP,Zhang YW,Shang HFdoi
10.1111/j.1468-1331.2009.02944.xsubject
Has Abstractpub_date
2010-06-01 00:00:00pages
846-51issue
6eissn
1351-5101issn
1468-1331pii
ENE2944journal_volume
17pub_type
杂志文章abstract:BACKGROUND AND PURPOSE:Growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis abnormalities in multiple sclerosis (MS) suggest their role in its pathogenesis. Interferon β (IFN-β) efficacy could be mediated also by an increase of IGF-1 levels. A 2-year longitudinal study was performed to estimate the prevalence ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13207
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Intracerebral hemorrhage (ICH) is a devastating cerebrovascular disorder with high morbidity and mortality. Minocycline is a matrix metalloproteinase-9 (MMP-9) inhibitor that may attenuate secondary mechanisms of injury in ICH. The feasibility and safety of minocycline in ICH patients were evalua...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ene.13403
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE: Multiple sclerosis (MS) has been associated with increased mortality rates. However, influence of lifestyle parameters remains unknown, and inconsistencies exist regarding findings for causes of death. METHODS: We conducted a population-based cohort study using the General Practice Research D...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2012.03668.x
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Neuromyelitis optica spectrum disorders (NMOSDs) are a group of rare inflammatory demyelinating disorders of the central nervous system. The identification of specific antibodies directed to aquaporin 4 (AQP4-IgG) led to the distinction from multiple sclerosis. However, up to 25% of the clinicall...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12898
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:In amyotrophic lateral sclerosis, studies using threshold-tracking transcranial magnetic stimulation (TMS) have identified corticomotoneuronal dysfunction as a key pathogenic mechanism. Some patients, however, display no motor response at maximal TMS intensities, termed here an 'inexcitable' moto...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14515
更新日期:2021-01-01 00:00:00
abstract::A 76-year-old man insidiously developed diffuse neurological symptoms: cognitive decline, dysphagia, dysphasia and mental disturbance. Computed tomography of the cranium revealed widespread bilateral brain edema and symmetrical bilateral sphenoid wing hyperostosis. Adjacent to the hyperostosis that resembled skull bas...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.1999.630363.x
更新日期:1999-05-01 00:00:00
abstract::We report here a novel point mutation in exon 5 of the Cu/Zn superoxide dismutase (SOD) gene resulting in an amino acid substitution of valine(148) by isoleucine (V148I) in a Japanese family with amyotrophic lateral sclerosis (FALS). In this family, the age at onset was young (28.0 ± 3.8 years old, mean ± SD, n = 4) a...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.1995.tb00141.x
更新日期:1995-09-01 00:00:00
abstract::Chronic obstructive pulmonary disease (COPD) is a risk factor for cardiovascular disorders and different types of stroke. The present retrospective study investigates whether COPD is also a risk factor for the development of seizures in stroke patients. The study population consisted of 237 patients with stroke-relate...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2007.01829.x
更新日期:2007-09-01 00:00:00
abstract:BACKGROUND:Motor symptoms form the hallmark of Parkinson's Disease (PD), although features like depression are often present. Depression rating scales [e.g. Montgomery-Asberg Depression Rating Scale (MADRS)] used in PD measure affective, cognitive and somatic symptoms. An important clinical question is which items of t...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02101.x
更新日期:2008-05-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Although there are a number of positive reports on the therapeutic effects of repetitive transcranial magnetic stimulation (rTMS) for treatment of tinnitus, there are few details about the duration of treatment effects or the relative efficiency of different rTMS protocols. METHODS:Sixty six pat...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02522.x
更新日期:2009-03-01 00:00:00
abstract:BACKGROUND:The presence of the apolipoprotein E (ApoE) 4 genotype is associated with an earlier age of onset for Alzheimer's disease (AD) and several other neurodegenerative disorders. The objective of this study was to investigate the effect of ApoE genotypes on the clinical course of amyotrophic lateral sclerosis (AL...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2010.03225.x
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease that may lead to disability and whose phenotype modulators are still unknown. METHODS:In the MIcrovascular LEukoencephalopathy Study (MILES), we asse...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/ene.12241
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Educating the public to screen for vascular risk factors and have them treated is a major public health issue. We assessed the vascular risk factor awareness and frequency of treatment in a cohort of patients with cerebral ischaemia. METHODS:Data on awareness and pharmacological treatment of vas...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1468-1331.2009.02562.x
更新日期:2009-06-01 00:00:00
abstract:BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder mediated by antibodies against the acethylcholine receptor (AchR) of the neuromuscular junction in the majority of patients. METHODS: Here, we examined IgG antibodies against the type 1 nuclear antigen of Epstein-Barr virus (EBNA-1) in the sera of 158 patien...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2011.03636.x
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Mutations in the PLA2G6 gene are causative of PLA2G6-associated neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile, childhood and adult onset forms. METHODS:Seventeen North African patients with a clinical suspicion of infantile-onset PLAN underwent clinical...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12552
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Several small retrospective studies have observed that patients with a purely ocular manifestation of myasthenia gravis (MG) are significantly less likely to convert to a generalized disease when treated early on with corticosteroids. However, given the limited number of reported patients in the ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12057
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND AND PURPOSE:To compare the frequency of intrathecal immunoglobulin (Ig) synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic'). METHODS:Patients with epileptic (n = 301) and non-epileptic (n = 10) seizures were retrospectively screened for autochthonous intrathecal ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13348
更新日期:2017-09-01 00:00:00
abstract::It is not well established whether seizures and epilepsy after an ischaemic stroke increase the disability of patients. Seventy-two patients with delayed seizures after a hemispheric infarct (37 with a single seizure and 35 with epilepsy) were included in the study. The modified Rankin scale was used to compare disabi...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01253.x
更新日期:2006-04-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Cerebrospinal fluid (CSF) removal improves clinical symptoms of many patients with idiopathic normal-pressure hydrocephalus (iNPH). The aim of this study was to investigate the correlation of changes in the optic nerve sheath diameter (ONSD) with patient responses to CSF removal. METHODS:Transor...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13225
更新日期:2017-03-01 00:00:00
abstract::A 53-year-old man presented with optic neuritis, followed within 10 weeks by a subacute progression of weakness, ataxia, and multiple cranial nerve palsies. Cranial magnetic resonance imaging demonstrated multiple T2-hyperintense lesions extending from the ponto-medullary junction to the thalamus and internal capsule....
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.2003.00543.x
更新日期:2003-01-01 00:00:00
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journal_title:European journal of neurology
pub_type:
doi:10.1111/ene.14747
更新日期:2021-01-18 00:00:00
abstract::While pathological crying has classically been described as a disturbance of the motor concomitants of emotional affect that is unrelated to mood, recent studies indicate that there may in fact be a correlation. We therefore undertook a study of post-stroke pathological crying in relation to mood score/depression and ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.1995.tb00092.x
更新日期:1995-03-01 00:00:00
abstract::The diagnosis of mitochondrial encephalomyopathies is complex and a system for classification of the diagnosis as definite, probable, and possible has been proposed. The objective of this study was to explore the spectrum of epileptic disorders associated with probable and definite mitochondrial disease in children us...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1351-5101.2003.00724.x
更新日期:2004-02-01 00:00:00
abstract::Treatment outcome in patients with neuropathic pain (NP) is often variable and disappointing. We tested the hypothesis that patients with clear evidence of nervous system lesion respond better to pharmacological treatment with documented effect on NP than patients with poor or no evidence of nervous system lesion. Fur...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1468-1331.2004.00843.x
更新日期:2004-08-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyopathy and liver disease. The aim of this study was to describe the clinical and genetic ma...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14402
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The association between past stroke subtypes and recurrent stroke subtypes in non-cardiogenic stroke remains unknown. METHODS:Patients with ischaemic stroke who had a past history of large-artery disease (LAD) or small-artery disease (SAD) subtypes were assessed. LAD was subdivided into intracra...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12101
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:Observational study to evaluate long-term effects of deep brain stimulation (DBS) of the globus pallidus internus (GPi) and the ventral intermediate thalamic nucleus (VIM) on patients with medically refractory myoclonus dystonia (MD). BACKGROUND:More recently, pallidal as well as thalamic DBS have been appli...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14737
更新日期:2021-01-16 00:00:00
abstract:BACKGROUND AND PURPOSE:The involvement of metabolic factors in the development of dementia has received much attention. However, previous studies have yielded conflicting results regarding how blood adipocytokine level impacts cognitive decline and dementia. This study aimed to clarify whether serum high-molecular-weig...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12915
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Cranial nerve palsy is occasionally present in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), but its prevalence, characteristics and relations with the CIDP subtypes have rarely been investigated. The aim of this study was to systematically assess cranial nerve involveme...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14497
更新日期:2020-12-01 00:00:00
abstract::We used 123I-Ioflupane SPECT to study striatal dopamine transporter (DAT) binding in 36 Parkinson's disease (PD) patients with history of severe occupational exposure to hydrocarbons. Data were compared with 38 PD patients without exposure history as well as healthy controls. Both PD cohorts showed significant striata...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01642.x
更新日期:2007-03-01 00:00:00