Abstract：
:Oxidative stress has been reported as one of the pathogeneses of Parkinson's disease (PD). Nuclear factor erythroid 2-related factor 2 (Nrf2) is a transcription factor that regulates the expression of the target genes involved in antioxidant pathway. The promoter polymorphisms of the Nrf2-encoding gene, NFE2L2, have been shown to affect the promoter activity. Inconsistent findings of the associations between NFE2L2 promoter polymorphisms and PD have been reported in a multiple candidate gene study, a whole-genome association study, and a case-control study in multiple ethnicity groups. This study enrolled a total of 1006 individuals composed of 480 PD patients and 526 controls to evaluate if there was an association of the NFE2L2 promoter polymorphisms with PD susceptibility in the Taiwan population. Three promoter single nucleotide polymorphisms (SNPs) rs35652124, rs6706649, and rs6721961 were examined using polymerase chain reaction and restriction analysis. The associations of each of the SNPs and the haplotypes constructed by the variations with PD susceptibility were examined. In spite of adequate statistic power, we observe no association of the three SNPs and their haplotypes with PD in a Taiwanese population. One of the reasons for the association disparity may include the genomic differences in ethnicities and environmental factors in different geographical regions.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Chen YC,Wu YR,Wu YC,Lee-Chen GJ,Chen CMdoi
10.1016/j.parkreldis.2012.10.018subject
Has Abstractpub_date
2013-02-01 00:00:00pages
247-50issue
2eissn
1353-8020issn
1873-5126pii
S1353-8020(12)00405-1journal_volume
19pub_type
杂志文章abstract：:Pathogenic mutations in the EIF4G1 gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of EIF4G1 mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's dis...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.03.004
更新日期：2014-06-01 00:00:00
abstract：:The goal of genetic association studies is to identify common (>5%) risk factors in complex disease traits. Herein we describe the first replicable 'functional' risk allele for Parkinson's disease. The leucine-rich repeat kinase 2 (Lrrk2) G2385R substitution is associated with familial parkinsonism, late-, and early-o...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2006.12.001
更新日期：2007-03-01 00:00:00
abstract：:We studied daytime sleepiness in 160 patients with Parkinson's disease and 40 normal subjects. We compared the prevalence of daytime sleepiness in patients who were taking levodopa alone, levodopa with bromocriptine, levodopa with ropinirole, and levodopa with pramipexole. We found that (1) all these anti-Parkinson dr...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00076-6
更新日期：2001-10-01 00:00:00
abstract：BACKGROUND:Multiple system atrophy (MSA) can clinically be divided into the cerebellar (MSA-C) and the parkinsonian (MSA-P) variants. It is unknown whether the variation in clinical expression is also reflected by a different underlying neurochemical profile. METHODS:We analyzed brain specific proteins and neurotransm...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.02.002
更新日期：2007-12-01 00:00:00
abstract：BACKGROUND:Transcranial B-mode sonography (TCS) has become an important tool in the differential diagnosis of parkinsonism given that current technology enables an adequate assessment of brain structures. In this study we aimed at evaluating the usefulness of midbrain area measured by TCS in the differential diagnosis ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2013.04.010
更新日期：2013-08-01 00:00:00
abstract：OBJECTIVES:Limited data currently exists within the UK addressing the level of Parkinson's disease (PD) healthcare provision. We investigated whether care for PD patients in a UK community met national guidelines, and the determinants of sub-optimal care for this patient group. METHODS:340 PD patients were identified ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.12.012
更新日期：2011-03-01 00:00:00
abstract：BACKGROUND:The prevalence and clinical correlates of drooling in Chinese patients with Parkinson disease (PD) are unknown. METHODS:A cross-sectional analysis of 518 Chinese patients with PD was conducted. Assessments included Unified PD Rating Scale (UPDRS), Non-Motor Symptoms Scale (NMSS), Hamilton Depression Scale (...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.12.004
更新日期：2015-03-01 00:00:00
abstract：BACKGROUND:Traditionally the risk of Parkinson's has been considered to increase monotonically with age, although there is evidence that prevalence and incidence may decrease in the oldest old. To examine this further we estimated the national prevalence and incidence of Parkinson's in New Zealand, using drug-tracing m...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.06.018
更新日期：2017-09-01 00:00:00
abstract：BACKGROUND:The Montreal Cognitive Assessment (MoCA) is increasingly being used as a cognitive screening test in Parkinson disease (PD). The MoCA's popularity likely reflects its ability to detect executive dysfunction, a relative deficiency of the Mini-Mental State Examination (MMSE). OBJECTIVE:To compare neurochemica...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.07.008
更新日期：2014-10-01 00:00:00
abstract：:Parkinson's disease (PD) is a common neurodegenerative disorder that produces progressive disability despite symptomatic treatment. Several strategies, including stereotaxic brain lesions, deep brain stimulation, transplants of dopamine cells and administration of neurotrophic factors, have been proposed to improve ef...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00005-6
更新日期：2002-06-01 00:00:00
abstract：:Anterograde tract-tracing and immunohistochemical methods were used to study projections from the pedunculopontine tegmental nucleus (PPN) to midbrain dopaminergic neurons in the squirrel monkey (Saimiri sciureus). The PPN harbored numerous cholinergic and glutamatergic neurons, as well as neurons that displayed both ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(99)00037-1
更新日期：1999-12-01 00:00:00
abstract：INTRODUCTION:Spinocerebellar ataxia 48 has recently been described as an adult onset ataxia associated with a cerebellar cognitive affective syndrome, caused by a heterozygous mutation in the STUB1 gene. METHODS:We characterized the clinical and neuroimaging phenotype of eight patients from two autosomal dominant atax...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.05.001
更新日期：2019-08-01 00:00:00
abstract：:Orthostatic hypotension is common in Parkinsonian patients. It is probably caused by reduced noradrenaline (NA) release. This effect is further enhanced by therapeutic use of ergot alkaloid dopamine agonists. In this trial we studied the impact of the non-ergot dopamine agonist ropinirole on blood pressure and noradre...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(98)00014-5
更新日期：1998-08-01 00:00:00
abstract：:This is a short report illustrating the problems of the prescribing of anti-Parkinson's disease (PD) medication in patients with PD who are admitted acutely to hospital for any reason. There were a large number of complications as a result of inappropriate or lack of anti-PD drug administration and poor understanding ...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章
doi：10.1016/j.parkreldis.2006.11.006
更新日期：2007-12-01 00:00:00
abstract：:The H1 haplotype was first identified 10 years ago. Initially, a dinucleotide polymorphism was detected in the tau (MAPT) gene and was subsequently found to be in linkage disequilibrium (LD) with other polymorphisms, forming the MAPT H1 haplotype, a risk factor for many neurological diseases, considered as tauopathies...
journal_title：Parkinsonism & related disorders
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.parkreldis.2008.03.001
更新日期：2009-01-01 00:00:00
abstract：INTRODUCTION:We aimed to evaluate whether neuromelanin-sensitive MRI (NM-MRI) features in the substantia nigra pars compacta (SNc) were of diagnostic value to differentiate untreated essential tremor (ET) from de novo tremor-dominant Parkinson's disease (PDT). METHODS:Eighteen untreated ET patients, 21 de novo PDT pat...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.07.007
更新日期：2019-01-01 00:00:00
abstract：INTRODUCTION:The aim of this study was to examine the association between mild parkinsonian signs (MPS), cerebral small-vessel disease (SVD), and total SVD burden in patients with vascular risk factors. METHODS:We performed a cross-sectional study among 268 patients with vascular risk factors but without parkinsonism ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.02.011
更新日期：2016-05-01 00:00:00
abstract：INTRODUCTION:Pimavanserin is a selective 5-HT2A inverse agonist/antagonist approved for treating hallucinations and delusions associated with Parkinson's disease psychosis (PDP). Results from short-term, placebo-controlled studies demonstrated a positive benefit/risk profile. This multi-year, open-label study assessed ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.06.026
更新日期：2020-08-01 00:00:00
abstract：:The present report documents a patient harboring an alpha-synuclein p.A53T variant from a family presenting with autosomal dominant inheritance, including four patients clinically diagnosed with Parkinson's disease (PD) and two with dementia. The alpha-synuclein p.A53T variant is linked to young- or middle-aged onset ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.11.001
更新日期：2020-12-01 00:00:00
abstract：INTRODUCTION:The pathophysiology of dysphagia in Parkinson's disease (PD) is heterogeneous and poorly understood at present. This study investigated the phenotypes, prevalence and pathophysiology of oropharyngeal freezing (OPF) in PD and its relation to dysphagia. METHODS:In a prospective study, 50 PD patients were sy...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.05.002
更新日期：2020-06-01 00:00:00
abstract：:This preliminary study aimed to analyse the roll-off of the foot during gait before and after implantation of a unilateral pallidal electrode in severely affected patients with Parkinson's disease (PD). Five subjects were tested in a gait laboratory during the "on" phase of the medication cycle. Spatiotemporal variabl...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(98)00038-8
更新日期：1998-12-01 00:00:00
abstract：:Patients with idiopathic Parkinson's disease (PD) have impaired sympathetically mediated neurocirculatory innervation. Here we analyzed the correlation between cardiac (123)I-metaiodobenzylguanidine (MIBG) uptake, orthostatic hypotension and heart rate variability in treated patients with PD. Orthostatic hypotension (...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2008.04.031
更新日期：2009-02-01 00:00:00
abstract：INTRODUCTION:While metals have been implicated in the pathophysiology of Parkinson's disease (PD), the clinical evidence is scarce. Further, the contribution of metals for the risk or clinical presentation of PD remains to be explored. METHODS:To investigate the associations between the level of metals in blood serum ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.022
更新日期：2018-10-01 00:00:00
abstract：OBJECTIVE:To determine the nationwide prevalence of primary dystonia, ataxia and hereditary spastic paraplegia (HSP) in Sweden. METHODS:We extracted data on all patients who were registered in The National Patient Register (NPR) in Sweden (population 9.64 million) at least twice during five consecutive years with a di...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.10.028
更新日期：2019-12-01 00:00:00
abstract：BACKGROUND:Visual hallucinations (VH) in Parkinson's disease (PD) are associated with PD dementia and have been related to cognitive impairments in non-demented PD patients. Reports on the specific cognitive domains affected are conflicting. The aim of the present study was to investigate the presence of specific cogni...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.04.026
更新日期：2013-09-01 00:00:00
abstract：:We report on two cases who presented with involuntary facial grimacing and frowning. Blepharospasm has never been documented in one, and the other case showed difficulty in lid opening only in the early phase of the disease. Botulinum toxin was effective for both. This is a hitherto unreported presentation of upper fa...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.12.001
更新日期：2008-11-01 00:00:00
abstract：INTRODUCTION:There is considerable intra- and inter-individual variability in the pharmacokinetics (PK) of levodopa after oral administration. Inter-individual variability in levodopa PK has also been demonstrated in fasting single-dose studies. We examined the factors that affect levodopa PK in patients with Parkinson...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.05.020
更新日期：2020-07-01 00:00:00
abstract：BACKGROUND:Tremor-related quality of life is a multi-dimensional concept that reflects the physical, emotional and other health effects of tremor. Curiously, tremor-related quality of life has never been directly compared in patients with the two major tremor disorders, essential tremor (ET) and Parkinson's disease (PD...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.04.019
更新日期：2015-07-01 00:00:00
abstract：OBJECTIVE:Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. METHODS:We assessed motor, cognitive, olfactory and a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.12.014
更新日期：2017-03-01 00:00:00
abstract：INTRODUCTION:The age of diagnosis of Huntington's disease (HD) varies among individuals with the same HTT CAG-repeat expansion size. We investigated whether early-life events, like perinatal insults or neurodevelopmental disorders, influence the diagnosis age. METHODS:We used data from 13,856 participants from REGISTR...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2018.05.016
更新日期：2018-10-01 00:00:00
