Abstract:
:The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington's disease gene, we review the milestones of genetic discoveries in movement disorders and their impact on clinical practice and research efforts. Before the 1980s, early techniques did not allow the identification of genetic alteration in complex diseases. Further advances increasingly defined a large number of pathogenic genetic alterations. Moreover, these techniques allowed epigenomic, transcriptomic and microbiome analyses. In the 2020s, these new technologies are poised to displace phenotype-based classifications towards a nosology based on genetic/biological data. Advances in genetic technologies are engineering a reversal of the phenotype-to-genotype order of nosology development, replacing convergent clinicopathological disease models with the genotypic divergence required for future precision medicine applications.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Sturchio A,Marsili L,Mahajan A,Grimberg MB,Kauffman MA,Espay AJdoi
10.1111/ene.14294subject
Has Abstractpub_date
2020-08-01 00:00:00pages
1461-1470issue
8eissn
1351-5101issn
1468-1331journal_volume
27pub_type
杂志文章,评审abstract:BACKGROUND AND PURPOSE:Current guidelines on cerebral venous thrombosis (CVT) diagnosis and management were issued by the European Federation of Neurological Societies in 2010. We aimed to update the previous European Federation of Neurological Societies guidelines using a clearer and evidence-based methodology. METHO...
journal_title:European journal of neurology
pub_type: 杂志文章,实务指引
doi:10.1111/ene.13381
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Several studies have reported associations between brain iron deposits (IDs), white matter hyperintensities (WMHs) and cognitive ability in older individuals. Whether the association between brain IDs and cognitive abilities in older people is mediated by or independent of total brain tissue dama...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13006
更新日期:2016-07-01 00:00:00
abstract::We studied specific aspects of speed performance in neuropsychological tests and functional and vocational long-term outcome among moderate or severe traumatic brain injury (TBI) patients admitted to a rehabilitation programme. A group of 140 patients with mild, moderate or severe TBI was followed up for a minimum of ...
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
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:BACKGROUND AND PURPOSE:Multiple sclerosis (MS) patients discontinuing natalizumab are at risk of rebound of disease activity. METHODS:In the present multi-center, open-label, non-randomized, prospective, pilot study, we tested whether treatment with glatiramer acetate (GA) is safe and effective after natalizumab in MS...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1468-1331.2012.03794.x
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Cardiac (123) I-metaiodobenzylguanidine ((123) I-MIBG) uptake in patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is markedly reduced, as in Parkinson's disease (PD). METHODS:We performed (123) I-MIBG scintigrams on patients with iRBD and PD. After the initial (123) I-MIBG sc...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2011.03392.x
更新日期:2011-10-01 00:00:00
abstract::The aim of this study was to compare the seizure outcome of two different types of epilepsy surgery, selective amygdalohippocampectomy (AHE) and anterior temporal lobectomy (ATLE) in patients with temporal lobe epilepsy. We included 114 patients who had mesio-temporal lobe epilepsy and hippocampal sclerosis or gliosis...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01565.x
更新日期:2007-01-01 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 performed a placebo-controlled cross-over trial of riluzole (100 mg b.i.d.) in 10 patients with probable multiple system atrophy (MSA) administering riluzole and placebo for 4 weeks each with a 4-week washout period. Outcome measures evaluated short-term anti-Parkinsonian effects using the Unified Parkinson's Disea...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1468-1331.2006.01452.x
更新日期:2006-10-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The aim was to study the prevalence of epilepsy in a hospital-based systemic lupus erythematosus (SLE) cohort and to investigate the relationship between epilepsy and other manifestations of neuropsychiatric SLE (NPSLE). METHODS:The study population consisted of 440 SLE patients recruited from 1...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14077
更新日期:2020-02-01 00:00:00
abstract::We evaluated the putative factors for the onset of Guillain-Barré syndrome (GBS) in Harbin, China by a case-control study based on the information from GBS patients identified from a population-based incidence survey, which is the first study of this kind in China. Sixty-nine GBS patients were identified during a 1-ye...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01390.x
更新日期:2006-09-01 00:00:00
abstract:BACKGROUND AND PURPOSE:There is increasing interest in using patient-reported outcome measures (PROMs) in clinical studies to capture individual changes over time. However, PROMs have also been criticized because they are entirely subjective. Our objective was to examine the relationship between a subjective PROM and a...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13025
更新日期:2016-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Our study aims to evaluate retinal function and neural conduction in post-retinal visual pathways of patients with non-arteritic ischaemic optic neuropathy (NION). METHODS:Twenty patients (mean age: 63.7 +/- 5.96 year) with NION and 20 age-similar control subjects were enrolled. Simultaneous rec...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02200.x
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Increased arterial stiffness causes vessel damage in the end-organs. Therefore small vessels in the brain may be susceptible to increased arterial stiffness. Cerebral microbleeds (CMBs) are topographically or pathophysiologically categorized as deep or infratentorial type and strictly lobar type....
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12332
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Cognitive impairment is common in Parkinson's disease (PD), even in the early stages. We aimed to assess the relationship between insulin-like growth factor-1 (IGF-1) and cognitive functions in early, drug-naïve patients with PD. METHODS:Serum IGF-1 was measured in 65 early, drug-naïve patients ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12137
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Dimethyl fumarate (DMF) causes a mean lymphocyte count drop of approximately 30% in relapsing-remitting multiple sclerosis (RRMS) patients. The relationship between this reduction and DMF effectiveness is controversial. The objective was to investigate if the decrease in absolute lymphocyte count...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14538
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Blood pressure (BP) levels in acute intracerebral hemorrhage (ICH) and mortality have not been thoroughly studied in the young. METHODS:The relationship between BP and mortality was assessed in consecutive patients with first-ever, non-traumatic acute ICH at ≤50 years of age, enrolled in the Hel...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13662
更新日期:2018-08-01 00:00:00
abstract::To establish the phenotypic variation and frequency of SPAST mutations or deletions in Norwegian patients with hereditary spastic paraplegia (HSP), we examined 59 unrelated patients with HSP and screened for DNA point mutations and microdeletions in SPG4. Forty-one had a familial history, 35 had a clear dominant inher...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2007.01861.x
更新日期:2007-07-01 00:00:00
abstract::We here present the case of a patient with a sleep disturbance attributed to the exploding head syndrome, recently redefined as 'episodic cranial sensory shock'. The patient, who suffered with concomitant migraine, was treated for headache prevention with daily single-pulse transcranial magnetic stimulation. Following...
journal_title:European journal of neurology
pub_type:
doi:10.1111/ene.14747
更新日期:2021-01-18 00:00:00
abstract::In this paper we report about the Danish Year of the Brain 1997 because it may serve as a model for other countries. It was possible in Denmark to organize a very large scale effort which has been well received by the general public and which has significantly improved the image of the neurological disciplines. The re...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.1998.560619.x
更新日期:1998-11-01 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
abstract:BACKGROUND AND PURPOSE:Migraine is a common neurological disorder. It can be divided into episodic migraine (EM) and chronic migraine (CM), based on headache frequency. Some studies have shown that insulin sensitivity is impaired in migraine; moreover, hypertension, diabetes and obesity are common in patients with CM. ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12289
更新日期:2014-02-01 00:00:00
abstract::We evaluated the cerebral hemodynamic features of severe bilateral carotid stenosis by assessing and comparing cerebral vasomotor reactivity (VMR) in the middle cerebral (MCA) and vertebral arteries (VA) by transcranial Doppler and the Diamox (1 g acetazolamide i.v.) test. VMR was evaluated by recording the percentage...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01160.x
更新日期:2006-02-01 00:00:00
abstract::We performed a double-blind, placebo-controlled study to evaluate the efficacy of low and high dose of intravenous immunoglobulins (IVIG) in relapsing/remitting (RR) multiple sclerosis (MS). Patients (n = 49) with clinical definite RR MS were randomly allocated to three groups and treated with 0.2 g/kg (n = 17) or 0.4...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1468-1331.2002.00500.x
更新日期:2002-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The coronavirus disease 2019 (COVID-19) pandemic challenges neurologists in counseling multiple sclerosis (MS) patients with respect to their risk for and by severe acute respiratory syndrome coronavirus 2 and in guiding disease-modifying treatment (DMT). The objective was to determine the freque...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14555
更新日期:2020-09-25 00:00:00
abstract:BACKGROUND AND PURPOSE:The prognostic value of serum neurofilament light chain (sNfL), a biomarker of neurodegeneration, compared to other prognostic factors of amyotrophic lateral sclerosis (ALS) at the time of diagnosis, remains unclear. METHODS:Sera from ALS patients were prospectively collected at the first diagno...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14063
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Paraprotein-associated neuropathies have heterogeneous clinical, neurophysiological, neuropathological and haematological features. Objectives. To prepare evidence-based and consensus guidelines on the clinical management of patients with both a demyelinating neuropathy and a paraprotein (paraproteinaemic de...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01467.x
更新日期:2006-08-01 00:00:00
abstract::The incidence of the neuropathological lesions and the severity of the clinical symptoms in multiple sclerosis (MS) are correlated with the amount of the transferred autoreactive T cells. The balance between the T helper 1 (Th1) and T helper 2 (Th2) cytokine phenotypes may affect the activity of the disease in MS pati...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1468-1331.2004.00986.x
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:To assess the efficacy and safety of olesoxime, a molecule with neuroprotective properties, in patients with amyotrophic lateral sclerosis (ALS) treated with riluzole. METHODS:A double-blind, randomized, placebo-controlled, multicenter trial of 18 months' duration was conducted in 512 subjects, ...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ene.12344
更新日期:2014-03-01 00:00:00
abstract::Serial single fiber electromyography (SFEMG) examinations of orbicularis oculi muscle in patients with blepharospasm or hemifacial spasm treated with botulinum toxin injections were performed. The aim of the study was to evaluate the impairment of neuromuscular transmission, to follow reinnervation after botulinum tox...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1468-1331.1999.640461.x
更新日期:1999-07-01 00:00:00