Abstract:
:White matter lesions (WML) and epilepsy have been occasionally seen in Wilson's disease. No cases of generalized myoclonus have been reported so far. We present a patient with psychiatric symptoms starting at age 16, followed by tremor, generalized dystonia and severe generalized myoclonus. In addition to classical findings, the MRI showed also extensive WML in temporal, parietal and frontal regions, preserving interhemispheric fibers. Necropsy revealed marked alterations of white matter, cortex and basal ganglia. We subsequently review the literature concerning WML and myoclonus in Wilson's disease.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Barbosa ER,Silveira-Moriyama L,Machado AC,Bacheschi LA,Rosemberg S,Scaff Mdoi
10.1016/j.parkreldis.2006.03.012subject
Has Abstractpub_date
2007-04-01 00:00:00pages
185-8issue
3eissn
1353-8020issn
1873-5126pii
S1353-8020(06)00082-4journal_volume
13pub_type
杂志文章abstract:INTRODUCTION:Germline silencing of the PD-related protein LRRK2 does not alter glutamate or dopamine release in adult mice, but some exploratory abnormalities have been reported with ageing. Contrastingly, high levels of human LRRK2 cause locomotor alterations and cognitive deficits accompanied by reduced striatal dopa...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.07.025
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:In addition to classic midbrain pathology, Parkinson's disease (PD) is accompanied by changes in pontine and medullary brainstem structures. These additional abnormalities may underlie non-motor features as well as play a role in motor disability. METHODS:Using novel magnetic resonance imaging (MRI) methods...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.01.003
更新日期:2012-06-01 00:00:00
abstract:INTRODUCTION:The aim of the study was to identify abnormalities of whole-brain network functional organization and their relation to clinical measures in a well-characterized, multi-site cohort of very early-stage, drug-naïve Parkinson's Disease (PD) patients. METHODS:Functional-MRI data for 16 healthy controls and 20...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.02.001
更新日期:2019-05-01 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::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:The prevalence and clinical correlates of drooling in Chinese patients with Parkinson disease (PD) are unknown. METHODS:A cross-sectional analysis of 518 Chinese patients with PD was conducted. Assessments included Unified PD Rating Scale (UPDRS), Non-Motor Symptoms Scale (NMSS), Hamilton Depression Scale (...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.12.004
更新日期:2015-03-01 00:00:00
abstract::Excessive daytime sleepiness (EDS) is common in Parkinson's Disease (PD). Actigraphy uses periods of immobility as surrogate markers of nighttime sleep but there are no examples of its use in assessing EDS of PD. A commercial wrist worn system for measuring bradykinesia and dyskinesia also detects 2 min periods of imm...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.02.011
更新日期:2014-06-01 00:00:00
abstract::The purpose of this preliminary study was to investigate the inter-rater reliability among physician, patient, and caregiver ratings on the Hoehn & Yahr (H & Y) and Schwab & England (S & E) rating instruments. We also examined differences in ratings between patients who attended clinic with and without caregivers (spo...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(01)00009-8
更新日期:2002-01-01 00:00:00
abstract:INTRODUCTION:Alzheimer's disease neuropathologies (amyloid-β and tau) frequently co-exist to varying degrees in Lewy body dementias (LBD), which include dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD). OBJECTIVES:To investigate the prevalence of tau in DLB and PDD, and its associations with clin...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2020.09.030
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Nocturnal hypokinesia is a common symptom in Parkinson's disease (PD), negatively affecting quality of life of both patients and caregivers. However, evidence-based treatment strategies are limited. OBJECTIVE:To evaluate the efficacy of rotigotine transdermal patch, using a wearable sensor, in the managemen...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.parkreldis.2017.08.010
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Tremor is a common feature of a variety of neurological disorders. In genetic studies of essential tremor (ET), investigators need to screen potential enrollees by mail or telephone to exclude those with other neurological conditions, especially dystonia. In clinical settings, the differentiation of ET and d...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.01.021
更新日期:2014-05-01 00:00:00
abstract::Invasive human brain recordings have shown that acute therapeutic deep brain stimulation (DBS) reduces cortical synchronization, measured by coupling of beta phase to gamma amplitude. Here we show by noninvasive scalp electroencephalography that withdrawal of chronic DBS elevates phase-amplitude coupling, in proportio...
journal_title:Parkinsonism & related disorders
pub_type: 信件
doi:10.1016/j.parkreldis.2019.08.018
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:Gait dysfunction is a common symptom of Parkinson's disease that can cause significant disability and put patients at risk for falls. These symptoms show variable responsiveness to dopaminergic therapy. OBJECTIVE:To determine whether dopaminergic (rs1076560 DRD2 G > T and rs4680 catechole-o-methyltransphera...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.12.010
更新日期:2018-03-01 00:00:00
abstract:INTRODUCTION:Mutations in GNAL have been associated with adult-onset cranio-cervical dystonia, but a limited number of cases have been reported so far and the clinical spectrum associated with this gene still needs to be fully characterized. METHODS:We identified an Italian family with adult-onset, dominantly-inherite...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.12.012
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:Effects on non-motor symptoms, mainly cognitive and psychiatric side effects, could influence the decision for either globus pallidus pars interna (GPi) or subthalamic nucleus (STN) deep brain stimulation (DBS) for patients with Parkinson's disease (PD). OBJECTIVE:1) To compare cognitive and psychiatric out...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2016.09.018
更新日期:2016-12-01 00:00:00
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-asso...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2011.10.014
更新日期:2012-03-01 00:00:00
abstract::Patients with Parkinson's disease (PD) experience progressive disability and reduced quality of life due to both motor and non-motor complications. The cost of illness escalates as PD progresses, placing an economic burden on the healthcare system, society and patients themselves. Overall cost estimates vary from coun...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2007.06.003
更新日期:2007-09-01 00:00:00
abstract::We have performed proton magnetic resonance spectroscopy centred on the putamen contralateral to the worst affected side in 10 patients with idiopathic Parkinson's disease (PD) and motor response fluctuations and seven age matched healthy controls. In PD, there was striking reduction in the N-acetylaspartate (NAA) and...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/1353-8020(96)00007-7
更新日期:1996-04-01 00:00:00
abstract::The H1 haplotype was first identified 10 years ago. Initially, a dinucleotide polymorphism was detected in the tau (MAPT) gene and was subsequently found to be in linkage disequilibrium (LD) with other polymorphisms, forming the MAPT H1 haplotype, a risk factor for many neurological diseases, considered as tauopathies...
journal_title:Parkinsonism & related disorders
pub_type: 历史文章,杂志文章,评审
doi:10.1016/j.parkreldis.2008.03.001
更新日期:2009-01-01 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: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::Several forms of autosomal recessive parkinsonism are known. In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features. Parkin mutations are most frequent, explaining -50% of the cases with...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(11)70004-9
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:Several evidences demonstrated the role of white matter (WM) lesions in the pathogenesis of Vascular Parkinsonism (VP), a clinical entity characterized by parkinsonism, postural instability, marked gait difficulty and poor response to levodopa. However, the involvement of normal appearing white matter (NAWM) ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.02.046
更新日期:2019-06-01 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:OBJECTIVE:Invasive techniques such as in-vivo microdialysis provide the opportunity to directly assess neurotransmitter levels in subcortical brain areas. METHODS:Five male Filipino patients (mean age 42.4, range 34-52 years) with severe X-linked dystonia-parkinsonism underwent bilateral implantation of deep brain lea...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.06.010
更新日期:2015-08-01 00:00:00
abstract::The mild cognitive impairment (MCI) concept was developed to identify the earliest stages of cognitive impairment. MCI and, more specifically, amnestic MCI were initially proposed as transitional states that ultimately progress to full blown Alzheimer's disease (AD). However, MCI subjects do not uniformly progress to ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2015.09.053
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Stereotactic functional neurosurgery on basal ganglia has a long history and the pioneers are mostly men. We aimed at finding out if there were women who have contributed pioneering work in this field. METHODS:The literature was searched to identify women who have been first to publish innovative papers rel...
journal_title:Parkinsonism & related disorders
pub_type: 传,历史文章,杂志文章,评审
doi:10.1016/j.parkreldis.2013.11.002
更新日期:2014-02-01 00:00:00
abstract::Sex-linked dystonia parkinsonism (XDP) was reported by Lee et al. in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex-linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalization. The movement disorder is characterized by dysto...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/s1353-8020(02)00042-1
更新日期:2002-10-01 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::Genetic studies over the past 15 years have revolutionized our understanding towards the etiology of Parkinson's disease (PD). These studies have discovered many disease-linked genetic loci (PARK 1 to 18), which are now being interrogated for cellular pathways contributing to PD. Various pathogenic pathways were propo...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(13)70037-3
更新日期:2014-01-01 00:00:00