Abstract:
BACKGROUND:Significant efforts have been focused on investigating the contribution of common variants to Parkinson disease (PD) risk. Several independent GWAS and metanalysis studies have shown a genome-wide significant association of single nucleotide polymorphisms (SNPs) in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) regions. Here we investigated the role of SNCA and MAPT as PD susceptibility genes in a large Italian population of 904 patients and 891 controls. An evaluation of gene-gene and gene-environment interactions in association with PD was also attempted. METHODS:The SNCA Rep1 microsatellite was genotyped by a fluorescent PCR assay, whereas the SNPlex genotyping system was used to genotype 12 additional markers across the SNCA gene, and 2 SNPs tagging the risk MAPT H1 haplotype. RESULTS:Single-marker analysis demonstrated nominal evidence of association for: i) the 261-bp-long allele of Rep1; ii) 7 SNPs in the SNCA region (top SNP: rs356186, P = 3.08 × 10(-04), intron 4); iii) both SNPs identifying the MAPT H1 haplotype (P = 4.63 × 10(-04) and P = 4.23 × 10(-04) for rs1800547 and rs9468, respectively). Moreover, we found a highly significant protective haplotype spanning ∼83 kb from intron 4 to the 3' end of SNCA (P = 1.29 × 10(-05)). CONCLUSIONS:Our findings strongly confirm SNCA and MAPT as major PD susceptibility genes for idiopathic PD in the Italian population. Interaction analyses did not evidence either epistatic effects between the two loci or gene-environment interactions.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Trotta L,Guella I,Soldà G,Sironi F,Tesei S,Canesi M,Pezzoli G,Goldwurm S,Duga S,Asselta Rdoi
10.1016/j.parkreldis.2011.10.014subject
Has Abstractpub_date
2012-03-01 00:00:00pages
257-62issue
3eissn
1353-8020issn
1873-5126pii
S1353-8020(11)00368-3journal_volume
18pub_type
杂志文章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::Levodopa (LD) is the most effective drug for symptomatic control of Parkinsonism (PS). As prolonged LD therapy leads to response failure; is associated with adverse effects; may accelerate disease process, and its impact on life expectancy is controversial, delaying LD use has been recommended. We studied 934 PS cases...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(97)00030-8
更新日期:1997-11-01 00:00:00
abstract::Several changes to society in the last four decades have had implications for people and their families living with Parkinson's disease (PD): (1) The change in the role of voluntary organisations highlighting the importance of listening to the needs of the patients and their families. (2) Demographic changes resulting...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(08)70056-7
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Mutations in the LRRK2 and alpha-synuclein (SNCA) genes are well-established causes of autosomal dominant Parkinson's disease (PD). However, their frequency differs widely between ethnic groups. Only three studies have screened all coding regions of LRRK2 and SNCA in European samples so far. In Turkey, the...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.12.007
更新日期:2018-03-01 00:00:00
abstract:INTRODUCTION:The Montreal Cognitive Assessment (MoCA) is a frequently utilized cognitive screening tool that has attractive clinical attributes when utilized in individuals with Parkinson's disease. However, the construct validity of this instrument has not been well-characterized in Parkinson's samples. The purpose of...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.05.023
更新日期:2017-08-01 00:00:00
abstract:INTRODUCTION:PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. METHODS:Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evoluti...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2018.10.013
更新日期:2019-04-01 00:00:00
abstract:BACKGROUND:The freezing phenomenon is among the most disabling symptoms of Parkinson's disease (PD) manifesting most commonly as Freezing of Gait with a paroxysmal cessation of effective stepping. Recent studies have suggested that freezing is related to both impairments in conflict resolution as well as the processing...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.parkreldis.2013.06.002
更新日期:2013-11-01 00:00:00
abstract::Acute dystonic reactions are usually observed after exposure to drugs with antidopaminergic actions. We report on one patient with acute dystonia associated with ingestion of a cloperastine containing syrup, who suffered from schizophrenia but had been neuroleptic-free for 6months. Cloperastine has antihistaminic prop...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(99)00042-5
更新日期:2000-01-01 00:00:00
abstract::Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.08.008
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION:Cognitive impairment and dementia are highly prevalent non-motor complications in Parkinson's disease (PD) with deleterious consequences for patients and caregivers. With no treatment currently available, finding and validating minimally-invasive biomarkers of neurodegeneration in this population represent...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.04.009
更新日期:2020-05-01 00:00:00
abstract::Deep brain stimulation (DBS) is an effective surgical therapy for well-selected patients with medically intractable Parkinson's disease (PD) and essential tremor (ET). The purpose of this review is to describe the success of DBS in these two disorders and its promising application in dystonia, Tourette Syndrome (TS) a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2006.03.001
更新日期:2007-02-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:Essential tremor (ET) can diminish functioning and quality of life (QOL) but generic QOL measures may be relatively insensitive to ET and its therapies. We sought to develop an ET-specific measure that might be more sensitive, acceptable to patients, relatively brief, and easily used. DESIGN/METHO...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2005.05.009
更新日期:2005-09-01 00:00:00
abstract::We report a cluster of five cases of Parkinson's disease (PD) among paper mill workers exposed to a fungicide, diphenyl. The cause of PD is still unknown, but epidemiological studies have indicated an elevated risk of developing PD after exposure to pesticides. The five cases of PD were found in a group of 255 dipheny...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2005.06.010
更新日期:2006-01-01 00:00:00
abstract::Current concepts regarding the pathogenesis of Parkinson's disease support a model whereby environmental factors conspire with a permissive genetic background to initiate the disease. The identity of the responsible environmental trigger has remained elusive. There is incontrovertible evidence that aggregation of the ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2014.02.031
更新日期:2014-07-01 00:00:00
abstract::Freezing of gait (FOG) is a common phenomenon in Parkinson's disease (PD) affecting over half of those in the advanced stages of the disease and often does not respond to standard drug therapies. This article proposes a possible mechanism by which this disorder of movement comes about. Co-ordinated neural activities a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2008.08.006
更新日期:2009-06-01 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::There is evidence that astrocytes and microglia can release agents which might have a protective effect on damaged neurons. However the associations of glia with dopaminergic neurons in Parkinson's disease are not defined. Our studies showed that in post mortem parkinsonian nigra healthy neuronal somata were enveloped...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(99)00022-x
更新日期:1999-09-01 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:BACKGROUND:In late stage Parkinson patients there is an unmet need for new treatments to adequately control motor complications, especially dyskinesias. In several preliminary studies, it has been suggested that applying unilateral low-frequency repetitive transcranial magnetic stimulation (LF rTMS), delivered at the p...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.11.009
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Parkinson's disease is characterized by pathological α-synuclein accumulation and cell death, which has been hypothesized to originate in peripheral nerve terminals and subsequently spread via autonomic nerves. Supporting this, most Parkinson's disease patients experience autonomic non-motor symptoms such as...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.08.011
更新日期:2019-01-01 00:00:00
abstract::Impulsive personalities are considered to have a general impairment in cognitive flexibility and cortical inhibition. To examine this hypothesis we used a trial by trial Stroop task in impulsive and non impulsive patients with Parkinson's disease (PD) and recorded errors and reaction times (RT). We tested 28 impulsive...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.12.014
更新日期:2011-03-01 00:00:00
abstract:INTRODUCTION:The DUALITY trial recently showed that both integrated and consecutive dual-task training improve dual-task gait velocity, without increasing fall risks in patients with Parkinson's disease (PD). Gait velocity was the primary outcome; not reported, however, were important gait measures related to the risk ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.parkreldis.2018.05.018
更新日期:2018-10-01 00:00:00
abstract::The feasibility and efficacy of deep brain stimulation (DBS) has offered new possibilities for treatment of movement disorders. Mechanical failure of the DBS system is a potential complication. Here we report five patients who presented with mechanical failure of the DBS system. Radiographs of the skull and cervical s...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2003.11.001
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVE:To demonstrate that degeneration of substantia nigra neurons may occur at later stages of disease in some patients with corticobasal syndrome (CBS) who evidenced preserved nigrostriatal pathway at a baseline FP-CIT SPECT study. BACKGROUND:Current pathological criteria for the definite diagnosis of corticobas...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.01.013
更新日期:2013-05-01 00:00:00
abstract::The aim of the present study was to evaluate complex upper limb motor function in newly diagnosed, untreated Parkinson's disease (PD) patients. Four different unimanual upper limb motor tasks were applied to 13 newly diagnosed, untreated PD patients and 13 age- and sex-matched controls. In a handwriting task, PD patie...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.07.019
更新日期:2008-01-01 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:BACKGROUND:Deep brain stimulation surgery (DBS) for movement disorders has become commonplace and patients are beginning to present to specialized centers for second opinions. We aimed to uncover reasons for referral by analyzing a large single center cohort of DBS patients referred for management. METHODS:Data were c...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.05.003
更新日期:2011-05-01 00:00:00
abstract::Myoclonus is a sudden and brief involuntary muscle contraction presenting with jerk-like movements that can occasionally involve the trunk muscles or the diaphragm as in the case of spinal myoclonus1. We here present an unusual case with unilateral diaphragmatic myoclonus owing to electrode dislocation of an implantab...
journal_title:Parkinsonism & related disorders
pub_type: 信件
doi:10.1016/j.parkreldis.2019.03.004
更新日期:2019-06-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to compare the short- and long-term outcomes of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) patients with and without probable REM sleep behavior disorder (RBD). METHODS:We retrospectively reviewed 127 patients who underwent bilateral S...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.06.031
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:To explore the microstructural integrity of the optic nerve and its role as a cognitive predictor in patients with de novo Parkinson's disease (PD) using diffusion tensor image-based magnetic resonance scans. METHODS:We enrolled 82 patients with de novo PD, 36 patients with drug-induced parkinsonism (DIP), a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.06.020
更新日期:2016-10-01 00:00:00