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-onset Parkinson's disease in ethnic Chinese Taiwanese. Crucially, we provide evidence of identity-by-descent and suggest that Lrrk2 G2385R carriers originate from one ancestor some 4800 years ago, at the start of Chinese civilization. Moreover, our findings demonstrate that common genetic coding variants contribute to Parkinson's disease in a population specific manner which may have important implications for future genome-wide association studies.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Farrer MJ,Stone JT,Lin CH,Dächsel JC,Hulihan MM,Haugarvoll K,Ross OA,Wu RMdoi
10.1016/j.parkreldis.2006.12.001subject
Has Abstractpub_date
2007-03-01 00:00:00pages
89-92issue
2eissn
1353-8020issn
1873-5126pii
S1353-8020(06)00287-2journal_volume
13pub_type
杂志文章abstract::We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation. Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiol...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(02)00034-2
更新日期:2003-01-01 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: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 c...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.12.018
更新日期:2016-03-01 00:00:00
abstract::Dystonia is an incurable movement disorder which can cause not only physical but also mental problems, leading to impaired health-related quality of life (HRQoL). For patients with dystonia refractory to medical treatment, deep brain stimulation (DBS) is a well-established surgical treatment. The objective of this sys...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.11.016
更新日期:2020-01-01 00:00:00
abstract::The adenosine A2A receptor is a major target of caffeine, the most widely used psychoactive substance worldwide. Large epidemiological studies have long shown caffeine consumption is a strong inverse predictor of Parkinson's disease (PD). In this review, we first examine the epidemiology of caffeine use vis-à-vis PD a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.10.024
更新日期:2020-11-01 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
abstract:INTRODUCTION:Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common genetic cause of Parkinson's disease (PD). However, only few cases carrying LRRK2 mutations have been reported in Taiwanese PD patients. METHODS:We used targeted next generation sequencing (NGS), covering 24 candidate genes involved in neu...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.09.008
更新日期:2016-12-01 00:00:00
abstract::Moclobemide, a potent reversible monoamine-oxidase A (MAO-A) inhibitor, is an effective antidepressant that does not cause impairment of cognitive function in elderly patients and might be beneficial to motor deficits in Parkinson's disease (PD). In a 12-week open-label prospective study, we administered moclobemide (...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(97)00028-x
更新日期:1997-12-01 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: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: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::Knowledge of molecular events contributing to motor dysfunction in Parkinson's disease has advanced rapidly during the past decade. Studies in animal models as well as in patients afflicted by this disorder suggest that the nonphysiologic stimulation of striatal dopamine receptors, first as a result of dopaminergic de...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2004.02.012
更新日期:2004-07-01 00:00:00
abstract::Parkinson's disease (PD) studies often measure daily motor function with paper diaries resulting in issues of compliance and reliability. The feasibility and compliance of PD patients using electronic diaries were examined. Twelve patients completed diaries for 7 consecutive days. Diaries recorded motor function, time...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.06.008
更新日期:2007-07-01 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::Abnormally aggregated tau protein is central to the pathophysiology of Alzheimer's disease, frontotemporal dementia variants, progressive supranuclear palsy, corticobasal degeneration and chronic traumatic encephalopathy. The post-mortem cortical density of hyperphosphorylated tau tangles correlates with pre-morbid co...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2015.08.011
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Essential tremor is the most common movement disorder in adults, but its exact etiology and pathophysiology are still not fully understood. There is some consensus, however, about the involvement of the cerebellum and accumulating evidence points towards a dysfunction of the gabaergic system. We hypothesize ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.04.024
更新日期:2012-08-01 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:INTRODUCTION:Patients with Parkinson disease (PD) often develop psychosis (P). The association of PDP with death and long-term custodial care (CC) has not been well studied. METHODS:Medicare Parts A, B, and D data, 2007-2015, were used to define cohorts of PD and PDP patients. PD was defined by ≥ 2 ICD-9-CM codes (332...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.10.018
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:Drug-induced Parkinsonism is common, causes significant morbidity, and can be clinically indistinguishable from idiopathic Parkinson's disease. Additionally, drug-induced Parkinsonism may, in some cases, represent "unmasking" of incipient Parkinson's disease. Clinical features or tests that distinguish degen...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.03.024
更新日期:2014-07-01 00:00:00
abstract::Synchronization of neuronal activity within and across distributed brain regions is a fundamental property of cortical and subcortical networks and serves a variety of functions including motor and cognitive processes. Data will be reviewed here from cross-sectional EEG and MEG studies to suggest that Parkinson's dise...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(08)70046-4
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Parkinson's disease (PD) is characterized by bradykinesia, rigidity, postural instability and tremor. Several pathologic processes can produce this syndrome, but neurodegeneration accompanied by neuronal inclusions composed of α-synuclein (Lewy bodies) is considered the typical pathologic correlate of PD. ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2017.07.033
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Japan and the United States (US) have different cultures of caregiving including differences in family structure and social programs that may influence caregiver strain. Differences in caregiver strain between regions in Japan and in the US have not been investigated in patient-spouse dyads in PD. OBJECTIVE...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.02.014
更新日期:2013-06-01 00:00:00
abstract::Today, the basal ganglia (BG) network can be viewed as a three-layer neural network in which the striatum and the subthalamic nucleus (STN) are the two BG input structures and together innervate BG downstream structures using GABA and glutamate, respectively. The striatum is larger than the STN and is the main site of...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2018.12.015
更新日期:2019-02-01 00:00:00
abstract:INTRODUCTION:The reduction of background activity and the increase of low-frequency powers on electroencephalogram (EEG) correlate with cognitive impairment and have been suggested to be underpinned by cholinergic deficit. We aimed to investigate the ratio between α and θ band power (α/θ ratio), as a synoptic index of ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.007
更新日期:2020-06-01 00:00:00
abstract::Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2004.05.003
更新日期:2004-10-01 00:00:00
abstract:RATIONALE:Cervical dystonia is the most common form of (primary) dystonia. The first line of treatment for cervical dystonia is intramuscular injections with botulinum toxin. To optimise the response to botulinum toxin proper muscles selection is required. Pre-treatment polymyographic EMG in addition to clinical evalua...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.01.018
更新日期:2013-05-01 00:00:00
abstract::The authors report one case of parkinsonism associated with systemic lupus erythematosus (SLE): a 45-year-old woman, who presented with a strategic infarct of the right substance nigra secondary to vasculitis, and contralateral symptoms. Other causes of parkinsonism were excluded. She had a partial response to therapy...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.08.001
更新日期:2008-01-01 00:00:00
abstract::Duplications and triplications of the alpha-synuclein (SNCA) gene have been reported in Parkinson's disease patients belonging to the Southern Swedish "Lister family". Further genealogical research has now shown that these individuals are descended from a large kindred characterized by Herman Lundborg in 1901-1913. In...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2008.08.002
更新日期:2009-06-01 00:00:00
abstract:BACKGROUND:Given the heterogeneity of mild cognitive deficits in non-demented Parkinson's disease (PD), sensitive and anatomically specific behavioural measures are crucial when evaluating cognition in this patient group. Inhibitory dysfunction is one such deficit increasingly being recognised in non-demented PD; howev...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.04.020
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:Non-motor symptom (NMS) differences between male Parkinson's disease (PD) and female PD, and between early-onset PD (EOPD) and late-onset PD (LOPD) in Chinese populations remain largely unknown. METHODS:A total of 522 PD patients from Southwest China were included. Patients were assessed using the Non-Motor...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.06.009
更新日期:2013-11-01 00:00:00