Abstract:
OBJECTIVES:To determine cortical grey matter (GM) changes and their clinical and biochemical correlates in patients with Wilson's disease using voxel based morphometry (VBM). METHODS:Clinical and imaging data of 10 patients (all male, mean age 16.0 ± 6.3years) with Wilson's Disease were analyzed. T1W volumetric MRI data of patients without obvious cortical atrophy or signal changes on conventional MRI was compared with MRI of 11 matched control subjects using VBM analysis with Statistical Parametric Mapping 8. Results were expressed at statistical threshold of p < 0.05 (FWE corrected) and p < 0.001 (uncorrected). Multiple regression analysis was done to analyze possible relation between GM atrophy, duration of disease and biochemical abnormalities. RESULTS:Compared to controls, patients showed scattered areas of reduced GM volume in bilateral caudate head, medial part of right globus pallidus and body of right caudate (FWE corrected p < 0.05). At p < 0.001(uncorrected) widespread areas of cortical atrophy were also noted involving the frontal and temporal lobes, lentiform nuclei, cerebellum and thalamus. Significant positive correlation (uncorrected p < 0.001) were noted between (i) duration of disease and cortical GM volume of frontal, parietal and temporal lobes and cerebellum (ii) serum copper levels and GM volume of right medial frontal gyrus and paracentral lobule. CONCLUSIONS:To the best of our knowledge, this is the first VBM study in patients with Wilson's disease. In spite of apparently normal cortex on visual inspection of MRI, decreased cortical GM volume was detected using VBM. In addition, serum copper may act as surrogate marker of cortical abnormalities in Wilson's disease.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Stezin A,George L,Jhunjhunwala K,Lenka A,Saini J,Netravathi M,Yadav R,Pal PKdoi
10.1016/j.parkreldis.2016.06.017subject
Has Abstractpub_date
2016-09-01 00:00:00pages
52-7eissn
1353-8020issn
1873-5126pii
S1353-8020(16)30237-1journal_volume
30pub_type
杂志文章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: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::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-o...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.12.001
更新日期:2007-03-01 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::Diagnostic biomarkers are measures that detect or confirm the presence of a disease or identify individuals with a subtype of the disease. For Parkinson's disease, unlike other neurodegenerative diseases such as Alzheimer's disease and Creutzfeldt-Jakob disease, diagnostic biomarkers remain elusive as none are yet ava...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2018.11.016
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Deep brain stimulation (DBS) is a well-established treatment for Parkinson's disease (PD). Optimization of DBS settings can be a challenge due to the number of variables that must be considered, including presence of multiple motor signs, side effects, and battery life. METHODS:Nine PD subjects visited the ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.01.018
更新日期:2015-04-01 00:00:00
abstract::In this study we aimed to investigate the effects of bilateral STN HFS in patients with advanced Parkinson disease (PD) at long-term, with a minimum follow-up of 4 years. Twenty patients (15 men, five women) were included, with a mean age of 60.9+/-8.1 years. Surgery was performed under local anesthesia. The target wa...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2004.10.011
更新日期:2005-05-01 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::Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a gen...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.04.009
更新日期:2007-05-01 00:00:00
abstract::Recent evidence in animal models of Parkinson's disease (PD) suggests that exercise and other forms of motor enhancement can be beneficial when applied during the degeneration of dopamine neurons. Behaviours that depend on adequate levels of striatal dopamine may provide particularly favourable targets for therapeutic...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2008.04.027
更新日期:2008-01-01 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: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::Anterograde tract-tracing and immunohistochemical methods were used to study projections from the pedunculopontine tegmental nucleus (PPN) to midbrain dopaminergic neurons in the squirrel monkey (Saimiri sciureus). The PPN harbored numerous cholinergic and glutamatergic neurons, as well as neurons that displayed both ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(99)00037-1
更新日期:1999-12-01 00:00:00
abstract:BACKGROUND:Many patients with Parkinson's disease (PD) suffer from sialorrhea. Sialorrhea is often treated with anticholinergics and botulinum toxin, but some adverse effects have limited the use of these treatments. Dihydroergotoxine mesylate is an α-adrenergic blocking agents as well as some affinities to the dopamin...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.parkreldis.2018.08.022
更新日期:2019-01-01 00:00:00
abstract:INTRODUCTION:Huntington's disease (HD) is the most common hereditary neurodegenerative disorder. Despite the fact that both the gene and the mutation causing this monogenetic disorder were identified more than 20 years ago, disease-modifying therapies for HD have not yet been established. REVIEW:While intense preclini...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2014.12.013
更新日期:2015-03-01 00:00:00
abstract::Orthostatic hypotension is common in Parkinsonian patients. It is probably caused by reduced noradrenaline (NA) release. This effect is further enhanced by therapeutic use of ergot alkaloid dopamine agonists. In this trial we studied the impact of the non-ergot dopamine agonist ropinirole on blood pressure and noradre...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(98)00014-5
更新日期:1998-08-01 00:00:00
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:INTRODUCTION:Cerebellar circuits are hypothesized to play a central role in the pathogenesis of essential tremor. Rhythmic finger tapping is known to strongly engage the cerebellar motor circuitry. We characterize cerebellar and, more specifically, dentate nucleus function, and neural correlates of cerebellar output in...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2015.02.003
更新日期:2015-04-01 00:00:00
abstract::The stiff-man syndrome (SMS) is characterised by rigidity and spasm of predominantly axial and proximal limb muscles. The cause of the condition is unknown but the finding of antibodies to glutamic acid decarboxylase (GAD) in approximately 60% of patients has suggested an autoimmune basis. Pathological findings are li...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/s1353-8020(01)00029-3
更新日期:2001-10-01 00:00:00
abstract:INTRODUCTION:Blood uric acid represents an important biomarker in sporadic Parkinson's disease (PD). Whether uric acid levels change in genetic forms of PD is beginning to be assessed. The aim of the present study was to evaluate differences in serum uric acid level among PD patients harboring mutations in the glucocer...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.12.020
更新日期:2021-01-20 00:00:00
abstract:INTRODUCTION:somatosensory temporal discrimination threshold (STDT) measures the ability to perceive two stimuli as being sequential. Altered STDT has been reported in Parkinson's disease (PD). The cerebellum seems to play a role in the pathophysiology of PD, and may consequently be involved in the pathophysiology of S...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.04.004
更新日期:2015-07-01 00:00:00
abstract:INTRODUCTION:In Parkinson's disease (PD), neuropsychiatric symptoms (NPS) can be particularly burdensome for caregivers. The main goal of this study was to assess the impact of NPS, assessed by means of a new specific scale, on caregiver burden. METHODS:A sample of 584 pairs of PD patients and their primary caregivers...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.03.024
更新日期:2015-06-01 00:00:00
abstract::Hyperechogenicity of the substantia nigra (SN) detected by transcranial sonography is a typical finding in more than 90% of patients with Parkinson's disease (PD) but may also be visible in about 9% of healthy adults. In this study, we found a correlation between SN hyperechogenicity and subtle motor dysfunction in ot...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.07.006
更新日期:2007-08-01 00:00:00
abstract::Parkinson disease (PD) reduces health-related quality of life (HRQoL), but exercise may improve HRQoL. This pilot study compared the effects of Tango, Waltz/Foxtrot, Tai Chi and No Intervention on HRQoL in individuals with PD. Seventy-five persons with PD (Hoehn and Yahr I-III) were assigned to 20 lessons of Tango, Wa...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2009.03.003
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVE:Melanopsin may be involved in the pathophysiology of photophobia in idiopathic isolated blepharospasm. We assessed the efficacy of blocking wavelengths of melanopsin absorption to reduce blinking in blepharospasm as a possible surrogate for photophobia. METHODS:Twenty-one participants (11 blepharospasm and 1...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.09.010
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Though visual illusions and hallucinations are common in dementia with Lewy bodies (DLB) and Parkinson's disease (PD), they are not typically observed clinically in prodromal stages, including isolated REM sleep behavior disorder (iRBD). False-noise errors on the pareidolia test (seeing faces when none are p...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.017
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Clinical differentiation between parkinsonian syndromes (PS) remains a challenge despite well-established clinical diagnostic criteria. Specific diagnostic biomarkers have yet to be identified, though in recent years, studies have been published on the aid of certain brain related proteins (BRP) in the diagn...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2011.08.012
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Traditionally the risk of Parkinson's has been considered to increase monotonically with age, although there is evidence that prevalence and incidence may decrease in the oldest old. To examine this further we estimated the national prevalence and incidence of Parkinson's in New Zealand, using drug-tracing m...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.06.018
更新日期:2017-09-01 00:00:00
abstract:INTRODUCTION:Psychosis is one of the common non-motor symptoms of PD, which substantially worsens the quality of life. Hence, it is important to identify factors that are associated with early onset of psychosis in PD. In order to identify those factors, the current study aims to compare various demographic and clinica...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.09.015
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Non-motor symptoms (NMS) are common in Parkinson's disease (PD) and cause significant distress. A high rate of non-declaration of NMS by patients to healthcare providers (HCP) means that many NMS remain untreated. Current understanding of the factors preventing disclosure of NMS to HCPs is limited. The prese...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.04.014
更新日期:2019-07-01 00:00:00