当前位置： SCI文献检索 > EUROPEAN JOURNAL OF NEUROLOGY期刊下所有文献 > A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia.

A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia.

Abstract：

:A PARK8 form of Parkinson's disease (PD) is caused by a novel gene, leucine-rich repeat kinase 2 (LRRK2), and a single mutation G2019S was found in a proportion of LRRK2-associated cases of diverse ethnic origins. We performed the LRRK2 G2019S mutation analysis in 304 Russian patients with PD, including 291 sporadic and 13 autosomal dominant cases. The frequency of the LRRK2 G2019S was 0.7% amongst the sporadic patients (2/291) and 7.7% amongst familial PD (1/13). The mutation was also found in three unaffected relatives and absent in 700 control chromosomes. One patient carrying the LRRK2 G2019S was found earlier to have an additional mutation, a heterozygous duplication of exon 5 of the parkin gene. All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive parkinsonism, and severe levodopa-induced dyskinesia was observed in the patient carrying the LRRK2 and parkin mutations. There was notable variability in ages of the disease onset in G2019S carriers not explained by APOE genotypes. Two subsets of G2019S-positive patients had different PARK8 haplotypes suggesting that the LRRK2 G2019S in Russian patients had arisen independently on different chromosomes. Identification of common LRRK2 mutations in some PD patients without an overt family history has notable implications for genetic counseling.

journal_name

Eur J Neurol

journal_title

European journal of neurology

authors

Illarioshkin SN,Shadrina MI,Slominsky PA,Bespalova EV,Zagorovskaya TB,Bagyeva GKh,Markova ED,Limborska SA,Ivanova-Smolenskaya IA

doi

10.1111/j.1468-1331.2007.01685.x

subject

Has Abstract

pub_date

2007-04-01 00:00:00

pages

413-7

issue

4

eissn

1351-5101

issn

1468-1331

pii

ENE1685

journal_volume

14

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF NEUROLOGY文献大全
  • Facial myokymia in brain death.

    abstract：BACKGROUND:Brain death (BD) is the irreversible loss of all functions of the brain and brainstem. Spontaneous and reflex movements of the limbs have been described in this condition. However, facial myokymia (FM) in BD has not been previously reported. The origin of that motor phenomenon in alive patients is still unce...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1468-1331.2001.00208.x

    authors： Saposnik G,Mauriño J,Saizar R

    更新日期：2001-05-01 00:00:00

  • Deep cerebral venous thrombosis presenting as acute amnestic syndrome.

    abstract：:A 45 year-old man presented with a rapid onset of memory impairment Brain computed tomography showed multiple abnormal low density areas in the deep cerebral white matter. Magnetic resonance imaging revealed bilateral thalamic infarcts and extensive thrombosis of the vein of Galen and the straight sinus, which was con...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.1995.tb00160.x

    authors： Daif AK,Awada A,Rajeh SA,Andeejani A

    更新日期：1995-11-01 00:00:00

  • Overview of magnetic resonance imaging for management of relapsing-remitting multiple sclerosis in everyday practice.

    abstract：:Although the value of magnetic resonance imaging (MRI) for diagnosis/differential diagnosis of patients with clinically isolated syndromes suggestive of multiple sclerosis (MS) is widely accepted, adoption of MRI into clinical practice to monitor disease evolution remains a work in progress. However, an accumulating b...

    journal_title：European journal of neurology

    pub_type： 杂志文章,评审

    doi：10.1111/ene.12800

    authors： Oreja-Guevara C,ParadigMS Group.

    更新日期：2015-10-01 00:00:00

  • Pain in diabetic neuropathy case study: whole patient management.

    abstract：:Painful diabetic peripheral neuropathy (DPN) is described as a superficial burning pain associated with other positive and/or negative sensory systems affecting the feet and lower extremities. It is one of the most commonly encountered neuropathic pain syndromes in clinical practice. Presentation may be complicated by...

    journal_title：European journal of neurology

    pub_type： 杂志文章,评审

    doi：10.1111/j.1471-0552.2004.00795.x

    authors： Marchettini P,Teloni L,Formaglio F,Lacerenza M

    更新日期：2004-04-01 00:00:00

  • Impaired neurovascular coupling in ischaemic stroke patients with large or small vessel disease.

    abstract：BACKGROUND AND PURPOSE:There is limited data of neurovascular coupling on stroke patients, especially on comparison of different etiologies. We aim to test the hypothesis that patients with small vessel disease (SVD) are impaired on neurovascular coupling rather than stroke patient with large intracranial artery stenos...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2010.03262.x

    authors： Lin WH,Hao Q,Rosengarten B,Leung WH,Wong KS

    更新日期：2011-05-01 00:00:00

  • Stroke following internal carotid artery occlusion - a contra-indication for intravenous thrombolysis?

    abstract：:Between March 1996 and December 1997, 15 consecutive patients with carotid artery occlusion diagnosed with duplex sonography were treated with intravenous recombinant tissue plasminogen activator (rt-PA), following a protocol similar to that of the National Institute of Neurological Disorders and Stroke (NINDS) study....

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1468-1331.1999.610051.x

    authors： Rudolf J,Neveling M,Grond M,Schmulling S,Stenzel C,Heiss WD

    更新日期：1999-01-01 00:00:00

  • The economic cost of brain disorders in Europe.

    abstract：BACKGROUND AND PURPOSE:In 2005, we presented for the first time overall estimates of annual costs for brain disorders (mental and neurologic disorders) in Europe. This new report presents updated, more accurate, and comprehensive 2010 estimates for 30 European countries. METHODS:One-year prevalence and annual cost per...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2011.03590.x

    authors： Olesen J,Gustavsson A,Svensson M,Wittchen HU,Jönsson B,CDBE2010 study group.,European Brain Council.

    更新日期：2012-01-01 00:00:00

  • Association of incompleteness of the anterior part of the circle of Willis with the occurrence of lacunes in the basal ganglia.

    abstract：BACKGROUND AND PURPOSE:This study investigated whether incompleteness of the anterior part of the circle of Willis affects the occurrence of lacunes in the basal ganglia. METHODS:One thousand and seventy-seven healthy individuals examined by magnetic resonance (MR) imaging and MR angiography were divided into eight su...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2011.03400.x

    authors： Miyazawa N,Shinohara T,Yamagata Z

    更新日期：2011-11-01 00:00:00

  • Peritumoral edema on MRI at initial diagnosis: an independent prognostic factor for glioblastoma?

    abstract：BACKGROUND:Peritumoral brain edema in glioblastoma patients is a frequently encountered phenomenon that strongly contributes to neurological signs and symptoms. The role of peritumoral edema as a prognostic factor is controversial. MATERIALS AND METHODS:This multi-centre clinical retrospective study included 110 patie...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2009.02613.x

    authors： Schoenegger K,Oberndorfer S,Wuschitz B,Struhal W,Hainfellner J,Prayer D,Heinzl H,Lahrmann H,Marosi C,Grisold W

    更新日期：2009-07-01 00:00:00

  • The 'hot cross bun' sign in the patients with spinocerebellar ataxia.

    abstract：BACKGROUND AND PURPOSE:The 'hot cross bun' sign (HCBS), typically seen in the patients with multiple system atrophy, refers to a cruciform hyperintensity in the pons on T2-weighted MRI. Little is known about its pathological basis and prevalence in other degenerative cerebellar diseases and healthy population. We inves...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2008.02524.x

    authors： Lee YC,Liu CS,Wu HM,Wang PS,Chang MH,Soong BW

    更新日期：2009-04-01 00:00:00

  • Xeomin in the treatment of cervical dystonia.

    abstract：BACKGROUND AND PURPOSE:Botulinum toxin type A (BoNT/A) is a highly effective and well-tolerated treatment for focal dystonias. The BoNT/A in Botox and Dysport is part of a high-molecular-weight complex that contains hemagglutinins and other non-toxic proteins, whilst Xeomin is a highly purified BoNT/A free of such comp...

    journal_title：European journal of neurology

    pub_type： 临床试验,杂志文章

    doi：10.1111/j.1468-1331.2009.02878.x

    authors： Benecke R

    更新日期：2009-12-01 00:00:00

  • Early treatment after a symptomatic event is not associated with an increased risk of stroke in patients undergoing carotid stenting.

    abstract：:A recently symptomatic carotid artery stenosis carries a high risk of subsequent ischaemic events and thus requires rapid treatment. We investigated the influence of the time delay between the last symptomatic event of a carotid stenosis and subsequent carotid artery stenting (CAS) with respect to the combined 30-day ...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2007.02002.x

    authors： Gröschel K,Knauth M,Ernemann U,Pilgram SM,Schnaudigel S,Kastrup A

    更新日期：2008-01-01 00:00:00

  • Reasons patients give to use or not to use immunomodulating agents for multiple sclerosis.

    abstract：BACKGROUND:Variations in the treatment of multiple sclerosis (MS) occur. This study was performed to obtain insight into the reasons why patients with MS use or do not use immunomodulating treatment (DMT). METHODS:We held a survey on the use of DMT in a group of 1572 patients with MS. RESULTS:Response rate was 89%. O...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2011.03411.x

    authors： Visser LH,van der Zande A

    更新日期：2011-11-01 00:00:00

  • One-year follow up of patients with chronic tinnitus treated with left temporoparietal rTMS.

    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

    authors： Khedr EM,Rothwell JC,El-Atar A

    更新日期：2009-03-01 00:00:00

  • Altered resting-state functional connectivity between subregions in the thalamus and cortex in migraine without aura.

    abstract：BACKGROUND AND PURPOSE:Migraine is a complex and disabling neurological disorder, the exact neurological mechanisms of which remain unclear. The thalamus is considered to be the hub of the central processing and integration of nociceptive information, as well as the modulation of these processes. METHODS:A total of 48...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.14411

    authors： Qin ZX,Su JJ,He XW,Zhu Q,Cui YY,Zhang JL,Wang MX,Gao TT,Tang W,Hu Y,Liu YS,Qiao Y,Liu JR,Li JQ,Du XX

    更新日期：2020-11-01 00:00:00

  • Acute autonomic dysfunction contralateral to acute strokes: a prospective study of 100 consecutive cases.

    abstract：:Complex painful reflex syndrome is sometimes described in the chronic phase of stroke. Acute autonomic dysfunction (AAD), which is occasionally present in cases of acute stroke, has not been studied prospectively. The aim of the study was to investigate AAD on the hemibody contralateral to the lesion in the acute phas...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2006.01488.x

    authors： Diserens K,Vuadens P,Michel P,Reichhart M,Herrmann FR,Arnold P,Bogousslavsky J,Ghika J

    更新日期：2006-11-01 00:00:00

  • A survey of neuroimaging research in European neurological departments.

    abstract：:In the international neurological literature, neuroimaging research plays an important role. Neuroimaging techniques are also of steadily increasing importance for clinical diagnosis and treatment monitoring. Therefore, neuroimaging research activities were surveyed by a questionnaire, which was completed by 100 neuro...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1468-1331.2001.00206.x

    authors： Herholz K,Perani D,Fazekas F,Markus H,Baumgartner RW,Baron JC

    更新日期：2001-03-01 00:00:00

  • The prevalence and clinical correlates of apathy and irritability in Alzheimer's disease.

    abstract：:We examined the prevalence and correlates of apathy and irritability in a consecutive series of 101 patients with probable Alzheimer's disease (AD). Based on clinical criteria, 46 (46%) patients had apathy, and 13 (13%) patients had irritability. Apathy was significantly associated with more severe impairments in acti...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.1995.tb00171.x

    authors： Starkstein SE,Migliorelli R,Manes F,Tesón A,Petracca G,Chemerinski E,Sabe L,Leiguarda R

    更新日期：1995-12-01 00:00:00

  • Validating new diagnostic imaging criteria for primary progressive aphasia via anatomical likelihood estimation meta-analyses.

    abstract：:Recently, diagnostic clinical and imaging criteria for primary progressive aphasia (PPA) have been revised by an international consortium (Gorno-Tempini et al. Neurology 2011;76:1006-14). The aim of this study was to validate the specificity of the new imaging criteria and investigate whether different imaging modalit...

    journal_title：European journal of neurology

    pub_type： 杂志文章,meta分析,评审

    doi：10.1111/ene.12902

    authors： Bisenius S,Neumann J,Schroeter ML

    更新日期：2016-04-01 00:00:00

  • Increased incidence of Guillain-Barré syndrome after surgery.

    abstract：BACKGROUND AND PURPOSE:Antecedent surgery has been described to trigger Guillain-Barré syndrome (GBS), but its evidence is poor and based on case reports only. METHODS:We performed a retrospective analysis of 63 patients with GBS admitted to the University Hospital Basel and University Children's Hospital Basel from J...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2012.03730.x

    authors： Gensicke H,Datta AN,Dill P,Schindler C,Fischer D

    更新日期：2012-09-01 00:00:00

  • Intrathecal immunoglobulin synthesis in patients with symptomatic epilepsy and epilepsy of unknown etiology ('cryptogenic').

    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

    authors： Fauser S,Soellner C,Bien CG,Tumani H

    更新日期：2017-09-01 00:00:00

  • Effect of glatiramer acetate on disease reactivation in MS patients discontinuing natalizumab.

    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

    authors： Rossi S,Motta C,Studer V,De Chiara V,Barbieri F,Monteleone F,Fornasiero A,Coarelli G,Bernardi G,Cutter G,Stüve O,Salvetti M,Centonze D

    更新日期：2013-01-01 00:00:00

  • Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

    abstract：BACKGROUND AND PURPOSE:The relative frequency of the different autosomal dominant cerebellar ataxia (ADCA) varies widely amongst different geographic locations. Here we describe a series of 45 ADCA families from Portugal. METHODS:Patients with progressive cerebellar dysfunction of autosomal dominant transmission under...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2009.02757.x

    authors： Vale J,Bugalho P,Silveira I,Sequeiros J,Guimarães J,Coutinho P

    更新日期：2010-01-01 00:00:00

  • Stroke unit care in clinical practice: an observational study in the Florence center of the European Registers of Stroke (EROS) Project.

    abstract：BACKGROUND:Randomized trials and meta-analyses indicate positive effects of stroke unit (SU) care on survival and dependency of patients with stroke. However, data on the advantages of SU in 'real-world' settings are limited. We prospectively assessed, in a large University Hospital, the effect of SU versus other conve...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2010.03207.x

    authors： Di Carlo A,Lamassa M,Wellwood I,Bovis F,Baldereschi M,Nencini P,Poggesi A,Cramaro A,Pescini F,Lucente G,Wolfe CD,Inzitari D,European Registers of Stroke (EROS) Project.

    更新日期：2011-05-01 00:00:00

  • Cerebral atrophy in Parkinson's disease patients with visual hallucinations.

    abstract：:Although visual hallucinations (VH) are relatively frequent in Parkinson's disease (PD) patients, their neural substrates are only known from neuropathological and functional magnetic resonance studies. The aim of this study was to investigate possible structural brain changes on MRI in non-demented PD patients with V...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2007.01768.x

    authors： Ramírez-Ruiz B,Martí MJ,Tolosa E,Giménez M,Bargalló N,Valldeoriola F,Junqué C

    更新日期：2007-07-01 00:00:00

  • Clinical and molecular analysis of 11 Sicilian SCA2 families: influence of gender on age at onset.

    abstract：:Autosomal dominant cerebellar ataxias (ADCAs) are a complex group of slowly progressive neurodegenerative disorders characterized by gait and stance ataxia, dysarthria and other symptoms of nervous system involvement. ADCA type I is the commonest form and is genetically heterogeneous; several loci have been identified...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1468-1331.1999.630301.x

    authors： Giuffrida S,Lanza S,Restivo DA,Saponara R,Valvo SC,Le Pira F,Trovato Salinaro A,Spinella F,Nicoletti A,Condorelli DF

    更新日期：1999-05-01 00:00:00

  • The association between ankle-brachial index and asymptomatic cranial-carotid stenosis: a population-based, cross-sectional study of 5440 Han Chinese.

    abstract：BACKGROUND AND PURPOSE:Routine screening for asymptomatic cranial-carotid stenosis (ACCS) is controversial and recommendation in clinical practice is vague. The ankle-brachial index (ABI) is reported as a predictor for cardiovascular disease. However, there is a scarcity of data about the association between abnormal A...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.12935

    authors： Qiu J,Zhou Y,Yang X,Zhang Y,Li Z,Yan N,Wang Y,Ge S,Wu S,Zhao X,Wang W

    更新日期：2016-04-01 00:00:00

  • Prevalence of migraine, tension-type headache and trigeminal neuralgia in multiple sclerosis.

    abstract：BACKGROUND:Prevalence rates of headache in multiple sclerosis (MS) patients varied widely in recent studies. This study aimed to investigate the 1 year prevalence of headache in MS compared with the general population. METHODS:Population-based case-control study in Germany. RESULTS:We included 491 patients with defin...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2008.02406.x

    authors： Putzki N,Pfriem A,Limmroth V,Yaldizli O,Tettenborn B,Diener HC,Katsarava Z

    更新日期：2009-02-01 00:00:00

  • Incidence, risk factors, etiology, severity and short-term outcome of non-traumatic intracerebral hemorrhage in young adults.

    abstract：BACKGROUND AND PURPOSE:Intracerebral hemorrhage (ICH) is a common and severe form of stroke but is scarcely studied in young adults. Our aim was to study risk factors, clinical presentation and early mortality of ICH in the young and compare these features with older patients. METHODS:All consecutive patients aged bet...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.12543

    authors： Koivunen RJ,Satopää J,Meretoja A,Strbian D,Haapaniemi E,Niemelä M,Tatlisumak T,Putaala J

    更新日期：2015-01-01 00:00:00

  • A summary of spasticity management--a treatment algorithm.

    abstract：:The muscle overactivity seen in spasticity results in limb stiffness and muscle spasm, to which there is both a neurogenic and a biomechanical component. Spasticity does not always cause harm and can assist in the rehabilitation process enabling a patient to stand when their limb weakness would not otherwise allow it....

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1468-1331.2002.0090s1048.x

    authors： Ward AB

    更新日期：2002-05-01 00:00:00