Abstract:
BACKGROUND AND PURPOSE:These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Since the publication of the first two EFNS-guideline papers on the molecular diagnosis of neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated series of guidelines. METHODS:Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members. RESULTS AND CONCLUSION:This paper provides updated guidelines for molecular diagnosis of Huntington's disease, Parkinson's disease and dystonias as well as a general introduction to the topic. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Harbo HF,Finsterer J,Baets J,Van Broeckhoven C,Di Donato S,Fontaine B,De Jonghe P,Lossos A,Lynch T,Mariotti C,Schöls L,Spinazzola A,Szolnoki Z,Tabrizi SJ,Tallaksen C,Zeviani M,Burgunder JM,Gasser T,EFNS.doi
10.1111/j.1468-1331.2009.02646.xsubject
Has Abstractpub_date
2009-07-01 00:00:00pages
777-85issue
7eissn
1351-5101issn
1468-1331pii
ENE2646journal_volume
16pub_type
杂志文章abstract::There are about 25.7 million stroke survivors worldwide. Ischaemic stroke remains the most common type of stroke. Numerous modifiable risk factors have been identified, including behaviors such as cigarette smoking and sedentary lifestyle and treatable medical comorbidities such as hypertension, hyperlipidemia and atr...
journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1111/ene.13409
更新日期:2018-01-01 00:00:00
abstract::Patients with mild cognitive impairment (MCI) typically present with memory complaints. Some of these patients have subcortical vascular disease on computed tomography (CT) scan, namely white matter changes and lacunar infarcts, however it is not known whether these findings are associated with more pronounced cogniti...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2004.00892.x
更新日期:2005-02-01 00:00:00
abstract::A case is described in which non-convulsive status epilepticus (NCSE) prompted further investigation leading to the diagnosis of Lafora body disease (LBD). The onset of NCSE was temporally related to the withdrawal of sodium valproate and introduction of carbamazepine, which may have been precipitating factors. NCSE h...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.1999.tb00021.x
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific haplotypes. This study aimed to explore the haplotypes encompassing the HTT gene in the Chinese population. METHODS:A total of 406...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14072
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Patients suffering from basilar artery occlusion (BAO) and treated with intravenous thrombolysis are, in some centers, started on adjunct anticoagulation in hyperacute settings. We aimed to assess the outcome of such patients and to compare low-molecular weight heparin (LMWH) and unfractionated h...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13781
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Parkinson´s disease (PD) has a large phenotypic variability, which may, at least partly, be genetically driven including alterations of gene products. Candidates might not only be proteins associated with disease risk but also pathways that play a role in aging. OBJECTIVE:To evaluate phenotype-modifying eff...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14733
更新日期:2021-01-15 00:00:00
abstract::To study the efficacy and safety of tolperisone - a centrally acting muscle relaxant with membrane stabilizing activity - in the treatment of stroke-related spasticity. This was a randomized, double-blind, placebo-controlled, multicenter study with parallel groups. Treatment lasted 12 weeks and was started with a titr...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1468-1331.2005.01006.x
更新日期:2005-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The guidelines for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) therapy suggest to use immunoglobulins (IVIg) and steroid as first-line therapies. Patients who do not respond to one of the two drugs should be switched to the other drug. We collected therapeutic outcome data in...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1468-1331.2009.02802.x
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:An immune activation response resembling virus or type I interferon responses has been observed in untreated multiple sclerosis (MS), but its pathogenic significance is uncertain. We studied the relationship between a type I interferon-like response in untreated patients with MS and disease activity. METHODS...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2010.03116.x
更新日期:2011-02-01 00:00:00
abstract::Intravenous immunoglobulin (IVIg) is an efficacious treatment for immune-mediated neuropathies like Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating neuropathy (CIDP), and multifocal motor neuropathy (MMN). In the pathogenesis of immune-mediated neuropathies chemokines and their receptors play a cruci...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01521.x
更新日期:2006-12-01 00:00:00
abstract::The Australian Pregnancy Registry, affiliated European Register of Antiepileptic drugs in Pregnancy (EURAP), recruits informed consenting women with epilepsy on treatment with antiepileptic drugs (AEDs), those untreated, and women on AEDs for other indications. Enrolment is considered prospective if it has occurred be...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01359.x
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND:Elevated total homocysteine (tHcy) levels may be caused by vitamin B12 deficiency and are linked to Alzheimers disease (AD) in some studies, although the evidence is mixed. Another marker of vitamin B12 deficiency, holo-transcobalamin (holo-TC), has not been studied in a prospective setting. OBJECTIVE:To in...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02590.x
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Polymorphisms of the interleukin-1 (IL-1) gene family have been proposed as potential variants for different diseases including multiple sclerosis (MS). With respect to MS, IL-1 beta (-511 C/T; rs16944), IL-1 beta (+3954 C/T; rs1143634), IL-1 alpha (-889 C/T; rs1800587), IL-1 alpha (+4845 G/T; rs17561), and ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2010.02952.x
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:We investigated the effectiveness of intravenous thrombolysis (IVT) in acute ischaemic stroke (AIS) patients with large vessel or distal occlusions and mild neurological deficits, defined as National Institutes of Health Stroke Scale scores < 6 points. METHODS:The primary efficacy outcome was 3-...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14199
更新日期:2020-06-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1351-5101.2003.00707.x
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Few recent data are available concerning idiopathic optic neuritis (ON). We aimed to describe a large cohort of patients with idiopathic ON. We compared this cohort with patients with ON related to myelin oligodendrocyte glycoprotein (MOG) or ON related to aquaporin-4 (AQP4) antibodies. METHODS:...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13753
更新日期:2018-11-01 00:00:00
abstract::In a previous, controlled study we demonstrated that the general lower limb activity measured by three-channel actometry is a promising objective measure of restless legs syndrome (RLS) severity. In the present study we have further evaluated the method in measuring RLS symptom severity in an open, single-day pramipex...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1468-1331.2004.00960.x
更新日期:2005-05-01 00:00:00
abstract::Visual system dysfunction has been reported in Parkinson's disease (PD). The objective of the present study was to evaluate a putative association of distorted colour vision and delayed initiation and execution of movement in PD. We performed the Farnsworth-Munsell 100-hue test and estimated the total error score in 3...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.1999.660711.x
更新日期:1999-11-01 00:00:00
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
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12248
更新日期:2014-01-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12300
更新日期:2014-03-01 00:00:00
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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
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02850.x
更新日期:2010-04-01 00:00:00
abstract::The purpose of this study was to investigate the surface electromyogram (EMG) of the lower limbs of hemiplegic children with spastic cerebral palsy during gait. The EMG of seven muscles was analyzed for 17 children (5-12 years old). The EMG of the involved side was decreased for the examined shank muscles and increase...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2005.01047.x
更新日期:2005-09-01 00:00:00
abstract::Moyamoya angiopathy (MA) is a progressive cerebrovascular disease with a poorly understood pathophysiology. It is mainly characterized by progressive bilateral stenosis of the terminal intracranial part of the supraclinoid internal carotid arteries and the proximal parts of the middle and anterior cerebral arteries, a...
journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1111/ene.14754
更新日期:2021-01-23 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.1999.tb00011.x
更新日期:1999-03-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2011.03400.x
更新日期:2011-11-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14102
更新日期:2020-03-01 00:00:00
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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
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02227.x
更新日期:2008-09-01 00:00:00