Abstract：
:Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement disorder presents in the second or third decade. The aim of this study was to ascertain genotype correlations with distinct neurological manifestations in 41 WD patients in a Brazilian center for WD. A total of 23 distinct mutations were detected, and the frameshift 3402delC had the highest allelic frequency (31.7%). An association between 3402delC and dysphagia was detected (p=0.01) but the limited number of patients is insufficient to allow one to draw conclusions. Both clinical studies analyzing larger cohorts and basic research on ATP7B protein function could potentially shed more light on our understanding of WD.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Machado AA,Deguti MM,Genschel J,Cançado EL,Bochow B,Schmidt H,Barbosa ERdoi
10.1016/j.parkreldis.2007.08.002subject
Has Abstractpub_date
2008-01-01 00:00:00pages
246-9issue
3eissn
1353-8020issn
1873-5126pii
S1353-8020(07)00171-Xjournal_volume
14pub_type
杂志文章abstract：:Parkinson's disease (PD) is the second most common neurodegenerative disease. Mutations in Leucine-rich-repeat-kinase 2 (LRRK2), the causative gene for PARK8 type PD with autosomal dominant inheritance, are the most prevalent genetic causes of both familial and sporadic PD. Animal models are critical tools in the atte...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70058-X
更新日期：2012-01-01 00:00:00
abstract：BACKGROUND:Survival in patients with Parkinson's disease is reduced as compared to the general population. We aimed to identify motor and non-motor features that predict mortality in Parkinson's disease. METHODS:A broad range of motor and non-motor features were assessed in a hospital-based cohort of 414 patients with...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.02.030
更新日期：2014-06-01 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: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：BACKGROUND:Deep brain stimulation improves motor function and quality of life in patients with Parkinson's disease. The impact of these changes on patients' spouses is largely unknown. METHODS:Twenty-six spouses of patients undergoing surgery were evaluated before and 12 months after surgery, using the 36-Item Short F...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.11.008
更新日期：2012-06-01 00:00:00
abstract：:Patients with advanced Parkinson's Disease (PD) may be eligible for Deep Brain Stimulation (DBS) in case of medication-related motor fluctuations or tremor refractory to oral medication. However, several PD symptoms are unresponsive to DBS and constitute relative contra-indications for DBS. Patients referred for DBS u...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2019.07.011
更新日期：2019-09-01 00:00:00
abstract：INTRODUCTION:Fatigue is one of the most common and disabling non-motor symptoms in Parkinson's disease (PD). The objective of this study was to determine prevalence and motor, behavioural, and cognitive correlates of distressing fatigue in early, de novo PD patients. METHODS:Eighty-one consecutive de novo PD patients ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.10.004
更新日期：2017-12-01 00:00:00
abstract：:Mean body mass index (BMI) in 100 cases of idiopathic Parkinson's disease (PD) was found to be 9% reduced in comparison to that in patients with either essential tremor or no neurologic disease. A similar reduction in BMI was also discovered among the 24 cases of PD in whom retrospective BMI data were available from t...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2004.07.001
更新日期：2005-01-01 00:00:00
abstract：INTRODUCTION:for a proportion of patients with functional motor symptoms (FMS), specific physiotherapy has recently emerged as a promising treatment. Aim of the present study was to assess in a sample of patients with FMS the efficacy of a physical therapy-based telemedicine programme on the motor symptoms themselves a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.05.004
更新日期：2020-07-01 00:00:00
abstract：BACKGROUND:No effective treatment for tardive dystonia (TD) has been well established. Deep brain stimulation (DBS) can ameliorate motor manifestations in primary dystonia, and may also be an effective approach for TD. OBJECTIVES:This study aimed to illuminate the long-term efficacy and safety of subthalamic nucleus (...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.05.010
更新日期：2017-08-01 00:00:00
abstract：BACKGROUND:Balance training has been demonstrated to improve postural control in patients with Parkinson's disease (PD). The objective of this pilot randomized clinical trial was to investigate whether a balance training program using augmented visual feedback is feasible, safe, and more effective than conventional bal...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.parkreldis.2014.09.022
更新日期：2014-12-01 00:00:00
abstract：UNLABELLED:Some recent studies indicate that most essential tremor (ET) cases have cerebellar pathology characterized by Purkinje cell (PC) loss and its sequelae. OBJECTIVE:To assess the role of PC degeneration in ET symptomatology. METHODS:We studied seven ET, six tremor dominant Parkinson's disease controls and two...
journal_title：Parkinsonism & related disorders
pub_type： 评论,杂志文章
doi：10.1016/j.parkreldis.2011.05.008
更新日期：2011-07-01 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：:Levodopa serves as the gold standard of anti-parkinsonian therapy and nearly every patient with Parkinson's disease eventually receives this drug. To improve upon levodopa therapy, several forms of treatment have been devised to augment its actions, and new delivery systems are under development. This new research off...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(09)70009-4
更新日期：2009-01-01 00:00:00
abstract：OBJECTIVE:To investigate the association between Apolipoprotein E (APOE) genotype and freezing of gait (FOG) in Parkinson's disease (PD). METHODS:This cohort study included 339 early PD patients who were divided into APOE ε4-positive (n = 88) and ε4-negative (n = 251) groups. They were followed-up for up to 6 years to...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.10.033
更新日期：2020-12-01 00:00:00
abstract：:The immunohistochemical demonstration of reactive microglia and activated complement components suggests that chronic inflammation occurs in affected brain regions in Parkinson's disease (PD). Evidence from humans and monkeys exposed to MPTP indicates this inflammation may persist many years after the initial stimulus...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2004.01.005
更新日期：2004-05-01 00:00:00
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 evaluated an association between essential tremor (ET) and the Parkinson's disease (PD) genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA). Clinical studies demonstrate an association between ET and PD, suggesting possible shared pathophysiologies, yet LRRK2 has rarely been studied in ET, and ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2009.05.008
更新日期：2010-02-01 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:Estimation of progression in Parkinson's disease (PD) is useful to guide clinical decisions and to enable patients to plan and manage their life with PD. Rapid eye movement (REM) sleep behavior disorder (RBD) and REM sleep without atonia (RWA) are recognized as early harbingers of neurodegeneration and may p...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.01.005
更新日期：2014-04-01 00:00:00
abstract：BACKGROUND:Lower levels of physical activity are associated with lower Health-Related Quality of Life (HRQoL) in Parkinson's disease (PD). We evaluated the influence of quantitative physical activity parameters among other (disease-related) features representing other domains of the WHO International model for classifi...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.12.023
更新日期：2018-03-01 00:00:00
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...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.01.003
更新日期：2005-06-01 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：BACKGROUND:A novel homozygous missense mutation (c.773G > A, p.Arg258Gln) in Synaptojanin 1 (SYNJ1, 21q22.2) has recently been reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism (ARJP). Contribution of this synaptic gene related to Parkinsonism phenotypes in o...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.07.014
更新日期：2016-10-01 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：: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:There is a dearth of studies of spinocerebellar ataxias (SCAs) and diffusion tensor magnetic resonance imaging (DTI). OBJECTIVE:To analyze changes observed in DTI parameters and correlate these to clinical findings in SCA3 and SCA10 patients. METHODS:SCA3 (n = 19) and SCA10 (n = 18) patients were compare...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.06.460
更新日期：2020-09-01 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：INTRODUCTION:Increasing evidence shows a strong association between idiopathic REM sleep behavior disorder (iRBD) and α-synucleinopathies. Recent studies have indicated an inflammatory mechanism in the pathogenesis of α-synucleinopathies. Whether peripheral inflammatory cytokines are altered in iRBD and can be biomarke...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.07.017
更新日期：2020-09-01 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
