Abstract:
INTRODUCTION:It is well known that α-synuclein (SNCA) and microtubule associated protein (MAPT) genes predispose individuals to develop Parkinson's disease (PD). However, whether these genes contribute to differences in the variable progression observed in PD is obscure. This study aims to evaluate the association of common variants in SNCA (rs11931074, rs894278) and MAPT (rs242557_H1c haplotype, rs3744456) genes with the severity and duration of motor and cognitive performance. METHODS:296 Chinese patients with PD were recruited from Shanghai Ruijin Hospital. Motor performance was assessed using the Unified Parkinson's Disease Rating Scale (UPDRS-III) and Hoehn &Yahar (H&Y) stages and cognitive performance using the Mini-Mental Status Examination (MMSE). Genetic associations were analysed using general linear modelling for severity and Cox regression analysis for duration to motor (UPDRS-III≥36 or H&Y ≥ 3, average duration 13 years) and cognitive (MMSE<27, average duration 8 years) cutoffs, covarying for age and gender. RESULTS:The severity of motor function associated with synergic interaction of SNCA (rs11931074) and MAPT (rs3744456) (p ≤ 0.05) while longer survival to the motor cutoff associated with SNCA (rs11931074/T, HR = 0.4, p = 0.03). Increased severity of cognitive function associated with MAPT (H1c haplotype, p = 0.05) with none of the risk alleles chosen associated with survival to the cognitive cutoff (p > 0.05). CONCLUSION:Our findings add further data showing that common variants in SNCA and MAPT genes contribute to variability in progression of PD, with SNCA variants associating with motor progression while MAPT variants associated with clinical severity.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Wang G,Huang Y,Chen W,Chen S,Wang Y,Xiao Q,Liu J,Fung VS,Halliday G,Chen Sdoi
10.1016/j.parkreldis.2015.12.018subject
Has Abstractpub_date
2016-03-01 00:00:00pages
89-94eissn
1353-8020issn
1873-5126pii
S1353-8020(15)30071-7journal_volume
24pub_type
杂志文章abstract:INTRODUCTION:Gait and balance impairments are cardinal features of Parkinson's disease (PD) that require cognitive input. However, the extent to which specific gait and balance characteristics relate to cognition in PD is unclear. In addition, independent models of gait and balance have not been developed from the same...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.06.014
更新日期:2019-12-01 00:00:00
abstract::Forty patients with Parkinson's disease (PD) were studied to explore the relationship between aspects of psychological functioning (depression, problems in motoric, cognitive and psychological areas) and physical illness (stage and duration of illness, functional disability, global cognitive status). Depression, motor...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(00)00010-9
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVE:To investigate the indications and the outcomes of gastrostomy tube insertion in patients with parkinsonian syndromes. METHODS:Consecutive patients with Parkinson's disease or atypical parkinsonism, seen in two French tertiary referral movement disorders centers, that received gastrostomy tube insertion (GTI...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.06.012
更新日期:2017-10-01 00:00:00
abstract::The authors review some particularities of movement disorders (MDs) in the ethnically diverse population of Latin America. Although idiopathic diseases are evenly prevalent, access to treatment encounters difficulties that are worth discussing. Infectious-parasitic diseases observed throughout the continent occasional...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2005.08.009
更新日期:2006-04-01 00:00:00
abstract::Hyperechogenicity of the substantia nigra (SN) detected by transcranial sonography is a typical finding in more than 90% of patients with Parkinson's disease (PD) but may also be visible in about 9% of healthy adults. In this study, we found a correlation between SN hyperechogenicity and subtle motor dysfunction in ot...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.07.006
更新日期:2007-08-01 00:00:00
abstract::Spinocerebellar ataxia (SCA) 17 is a dominant, progressive, neurodegenerative disorder. The disease is caused by a triplet repeat expansion mutation within TATA-binding protein (TBP). Ataxia, dementia, parkinsonism and dystonia are common features. We have previously shown in several pedigrees that SCA-2 and SCA-3 can...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(03)00027-0
更新日期:2003-08-01 00:00:00
abstract:INTRODUCTION:To overcome travel distance and lack of local expertise, telemedicine programs have been implemented and are still pilot programs in many jurisdictions. Patient perspectives remain poorly understood. In the largest study to date, we examined user satisfaction and predictors of patient choice to use telemed...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.02.018
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:Microstructural white matter integrity captured by diffusion-tensor imaging (DTI) is significantly more affected in progressive supranuclear palsy-Richardson's syndrome (PSP-RS) compared to PSP-parkinsonism (PSP-P). OBJECTIVES:To characterize the microstructural integrity of large fascicular bundles using s...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.02.007
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:The primary objective was to evaluate the efficacy and safety of droxidopa as add-on therapy in improving stiffness, tremors and other motor functions and activities of daily living for moderate-to-severe Parkinson's disease (PD). METHODS:PD patients, above Hoehn-Yahr III (including Hoehn-Yahr III), were ran...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.parkreldis.2015.08.023
更新日期:2015-10-01 00:00:00
abstract:INTRODUCTION:Deep brain stimulation of subthalamic nucleus (STN-DBS) for Parkinson's disease allows for a reduction in medication dosage. Changes in total levodopa equivalent daily dose (LEDD) have been frequently reported, there is little information about changes within the drug classes. METHODS:We retrospectively a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.03.003
更新日期:2015-06-01 00:00:00
abstract::We report 27 cases of delayed-onset dystonia in patients with antecendents of perinatal asphyxia after excluding other possible causes of dystonia. The patients were 16 males and 11 females (mean +/- SD age at onset of dystonia = 13.0 +/- 9.4 yr). Adverse obstetric and/or perinatal events were presented by 20 patients...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(96)00035-1
更新日期:1997-01-01 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:aim of the study was to evaluate the presence of the Obsessive Compulsive Personality Disorder (OCPeD) in Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP) and Essential Tremor (ET) and in a group of healthy subjects. METHODS:patients affected by MSA, PSP and ET diagnosed according to cu...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.06.015
更新日期:2016-09-01 00:00:00
abstract:INTRODUCTION:We performed a systematic review and Bayesian network meta-analysis to clarify the relative efficacy and safety of pimavanserin compared to atypical antipsychotics for psychosis in Parkinson's disease (PD). METHODS:PubMed, Embase, Cochrane Central Register of Controlled Trials, and Japana Centra Revuo Med...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.07.021
更新日期:2020-09-01 00:00:00
abstract:INTRODUCTION:Recent evidence suggests deep brain stimulation can alter impulse control. Our objective was to prospectively evaluate the effects of subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation on impulse control disorders (ICDs) in the setting of a conservative dopamine reduction s...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.08.006
更新日期:2017-11-01 00:00:00
abstract:INTRODUCTION:Cognitive dysfunction is common in progressive supranuclear palsy (PSP) but its effect on medical decision-making has not been well studied. To address this gap in the research literature, we compared the medical decision-making capacity of patients with PSP to groups of patients with other neurodegenerati...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.11.022
更新日期:2019-04-01 00:00:00
abstract::Motor complications arising after long-term treatment with levodopa remain one of the main challenges in the treatment of patients with Parkinson's disease (PD). Monotherapy with dopamine agonists may delay the onset of motor complications or reduce their severity when added to levodopa treatment. Here, we retrospecti...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2005.03.005
更新日期:2005-09-01 00:00:00
abstract::The stiff-man syndrome (SMS) is characterised by rigidity and spasm of predominantly axial and proximal limb muscles. The cause of the condition is unknown but the finding of antibodies to glutamic acid decarboxylase (GAD) in approximately 60% of patients has suggested an autoimmune basis. Pathological findings are li...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/s1353-8020(01)00029-3
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVE:Our purpose was to determine whether the use of catechol-O-methyltransferase-inhibitors (ICOMT) can reduce the risk of developing levodopa (LD)-induced neuropathy in Parkinson's disease (PD) patients. METHODS:A multicentre study of 197 PD patients was performed. 144 were exposed to LD for more than three yea...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2016.04.016
更新日期:2016-06-01 00:00:00
abstract::In patients with Idiopathic Parkinson's Disease (IPD) without a history of syncope the cardiovascular and cerebrovascular response to orthostatic stress was studied to search for subclinical impairment of autoregulatory mechanisms. Fifteen patients with IPD and 15 healthy age-matched controls were studied at rest and ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(01)00014-1
更新日期:2002-03-01 00:00:00
abstract:INTRODUCTION:Glucocerebrosidase (GBA) gene variants are associated with the development of the Lewy body disorders (LBD) Parkinson disease (PD) and dementia with Lewy bodies (DLB). Idiopathic REM sleep behavior disorder (IRBD) represents prodromal LBD in most instances. We investigated whether GBA variants are overrepr...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.02.034
更新日期:2018-05-01 00:00:00
abstract::Positron emission tomography (PET) scan is considered to be the most useful tool with which to assess the integrity of nigrostriatal function in the living brain. Recently, different genetic defects have been associated with a variety of familial parkinsonian syndromes, the clinical phenotypes of which have varying de...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/s1353-8020(01)00008-6
更新日期:2001-09-01 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::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::Restless legs syndrome (RLS) is a common condition characterized by an urge to move the legs, accompanied by uncomfortable or unpleasant sensations. Symptoms predominantly occur at rest in the evening or at night, and they are alleviated by moving the affected extremity or by walking. Recent European epidemiological s...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(09)70838-7
更新日期:2009-12-01 00:00:00
abstract::Today's society is changing rapidly and individuals increasingly favor an active role in designing their own lives. Contemporary patients are no exception, but the present health care system-which is organized primarily from the provider's perspective-is not yet prepared for this development. Here, we argue that an al...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2013.04.022
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:In addition to the most frequent TOR1A/DYT1 mutation (c.907_909delGAG), a growing number of TOR1A sequence variants are found in dystonia patients. For most, functional characterization has demonstrated pathogenicity at different levels, implying that TOR1A genetic testing should not be limited to screening ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.08.001
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:To examine the tolerability and effectiveness of propranolol in treating tardive dyskinesia (TD). BACKGROUND:TD is a disabling, often irreversible, movement disorder that results from chronic therapy with dopamine receptor blocking drugs. There are no treatments currently approved for this disorder. Proprano...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.09.004
更新日期:2016-11-01 00:00:00
abstract::We report here on a Japanese family in which five members in three generations developed non-progressive adult onset cortical tremor and epilepsy. Other than tremulous movements resembling essential tremor, the neurologic findings were unremarkable. Electrophysiologic studies revealed giant somatosensory evoked potent...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(97)00001-1
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Punctual delivery of dopaminergic medication to Parkinson's disease (PD) patients may be important in optimizing disease control. We tested the hypothesis that prompt delivery of l-dopa medications to emergency hospital inpatients was associated with a decreased length of stay in hospital. METHODS:The study...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.11.004
更新日期:2017-02-01 00:00:00