Abstract:
:The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Baba Y,Tsuboi Y,Baker MC,Uitti RJ,Hutton ML,Dickson DW,Farrer M,Putzke JD,Woodruff BK,Ghetti B,Murrell JR,Boeve BF,Petersen RC,Verpillat P,Brice A,Delisle MB,Rascol O,Arima K,Dysken MW,Yasuda M,Kobayashi T,Sunohdoi
10.1016/j.parkreldis.2005.01.003subject
Has Abstractpub_date
2005-06-01 00:00:00pages
205-8issue
4eissn
1353-8020issn
1873-5126pii
S1353-8020(05)00020-9journal_volume
11pub_type
杂志文章abstract::Relatively early seminal investigations on 'mammalian alkaloid biosynthesis'-endogenous Pictet-Spengler condensations of catecholamines or indoleamines with aldehydes (such as acetaldehyde from ethanol metabolism) to form tetrahydroisoquinoline or beta-carboline alkaloids-and the roles of mammalian alkaloids in the CN...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/s1353-8020(02)00024-x
更新日期:2002-09-01 00:00:00
abstract::Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilon-sarcoglycan gene but the syndrome of "myoclonic dystonia" has been shown to be a heterogeneous group of genetic disorders. The underlying pathophysiology o...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2020.06.016
更新日期:2020-08-01 00:00:00
abstract:INTRODUCTION:Recent work suggests that wearables can augment conventional measures of Parkinson's disease (PD). We evaluated the relationship between conventional measures of disease and motor severity (e.g., MDS-UPDRS part III), laboratory-based measures of gait and balance, and daily-living physical activity measures...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.01.022
更新日期:2019-05-01 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::Involuntary movements are not a known feature of vitamin B12 (vB12) deficiency in adults, though they are a characteristic feature of vB12 deficiency in infants. This case report presents an adult patient with vB12 deficiency in whom, myoclonus-like muscular contractions appeared soon after the initiation of vB12 and ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(03)00065-8
更新日期:2003-10-01 00:00:00
abstract::Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations. Movement disorders have rarely been reported in CTX, while a detailed appreciation of the full phenotypic spectrum is required in order to prevent underdiagnosis of ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2018.07.006
更新日期:2019-01-01 00:00:00
abstract::Some procedures, such as deep inspiration, increase sweat output (SSwR; sympathetic sweat response) and reduce cutaneous blood flow (SVR; skin vasomotor reflex) on the palm. We investigated SSwR, SVR, and cardiovascular function in 12 patients with progressive supranuclear palsy (PSP), 13 patients with Parkinson's dis...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(03)00109-3
更新日期:2003-12-01 00:00:00
abstract:INTRODUCTION:Early Onset Parkinson's Disease (EOPD) is genetically heterogeneous. PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1.DJ1 mutations is rare and there is scarce literature on its phenotype and long term outcome. OBJECTIVES:We undertook a retrospective study to determine...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.04.024
更新日期:2016-11-01 00:00:00
abstract::Although primary focal hand dystonia has been well characterized, primary focal foot dystonia in adults has rarely been reported. Our objective was to describe the clinical phenotype and treatment outcomes in patients with primary, adult-onset focal foot dystonia. To this end we conducted a retrospective study of four...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2005.07.004
更新日期:2006-01-01 00:00:00
abstract::The objective of this review is to assess the effectiveness of tai chi as a treatment option for Parkinson's disease (PD). We have searched the literature using 21 databases from their inceptions to January 2008, without language restrictions. We included all types of clinical studies regardless of their design. Their...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2008.02.003
更新日期:2008-12-01 00:00:00
abstract:INTRODUCTION:Executive dysfunction is a common and early cognitive symptom in Parkinson's disease (PD) with a detrimental effect on quality of life of patients and their care givers. Thus, a number of neuroimaging studies investigated the underlying neural correlates of such an impairment. Results of individual studies...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,meta分析
doi:10.1016/j.parkreldis.2019.02.015
更新日期:2019-06-01 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::Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned "DYT" numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(11)70049-9
更新日期:2012-01-01 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: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::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::There has been a tremendous development since a regional progression of pathology in subjects with Lewy bodies (LB) was initially proposed 30 years ago. The entity of dementia with Lewy bodies has been acknowledged, the main protein constituent of LBs--aggregated α-synuclein (αS)--has been identified and a stepwise pr...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(13)70016-6
更新日期:2014-01-01 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:INTRODUCTION:The deep brain stimulation (DBS) withdrawal syndrome (DBS-WDS) is a rare, life-threatening complication in Parkinson's disease (PD) patients with long disease duration and stimulation when stimulation is terminated for extended periods mostly due to infection of the DBS-hardware. METHODS, RESULTS:In five ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.06.035
更新日期:2018-11-01 00:00:00
abstract::This study presents data on the antemortem evaluations of a cohort of individuals registered in a brain donation program. Clinical evaluation determined that many individuals were unaware they had clinical signs of Parkinson's disease (PD) (rest tremor, bradykinesia, rigidity). Quantitative motor testing (timed tappin...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(02)00012-3
更新日期:2002-12-01 00:00:00
abstract:BACKGROUND:A mean of 10 years elapse before patients with Parkinson's disease (PD) reach Hoehn & Yahr (H&Y) stage 4, and 14 years for stage 5. A small proportion of PD patients survive and are ambulatory for ≥ 20 years. We sought to identify features associated with long-duration PD (dPD). METHODS:This five-center, ca...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.07.008
更新日期:2013-01-01 00:00:00
abstract::We report the first instance of restless legs syndrome (RLS) associated with periodic limb movements (PLM) and disruption of sleep architecture occurring in a patient following ischemic infarction in the right lenticulostriate region. Recently, a role for the basal ganglia-brainstem system in the control of motor beha...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.02.004
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVES:To determine whether vascular parkinsonism (VaP) patients with visually normal dopamine transporter (DAT) scans have presynaptic dopaminergic depletion. METHODS:We enrolled 23 VaP patients who had parkinsonism, relevant diffuse subcortical white matter hyperintensities (WMH), and visually normal DAT scans, ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.11.002
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Apathy is a common neuropsychiatric syndrome in Parkinson's Disease (PD) that affects quality of life. Research into apathy has been hampered by a lack of broadly accepted diagnostic criteria. Recently, diagnostic criteria for apathy in neuropsychiatric disorders have been proposed, which to date have not be...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.08.015
更新日期:2010-12-01 00:00:00
abstract:OBJECTIVE:To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay. METHODS:We retrospectively analyzed our patients with mutations in the parkin RBR E3 ubiquitin protein ligase gene (PRKN). We collected a total of 34 patients and focused on 1...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.01.010
更新日期:2019-06-01 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::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: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: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:OBJECTIVE:To evaluate the efficacy of solifenacin succinate in Parkinson's disease (PD) patients suffering from overactive bladder (OAB). BACKGROUND:Urinary dysfunction is a commonly encountered non-motor feature in PD that significantly impacts patient quality of life. DESIGN/METHODS:This was a double-blind, randomi...
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.2015.02.025
更新日期:2015-05-01 00:00:00