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 autonomic functions as well as demographic data and medical history in a cohort of Ashkenazi Jewish PD patients who were screened for seven common mutations in the GBA gene. We then compared three groups of patients (matched for age and disease duration) who were distinguished by their GBA mutation status, idiopathic PD (iPD), GBA heterozygote PD (GBA-PD) and GD-PD. RESULTS:Out of a total of 1050 AJ PD patients screened, 12 were found to be either homozygotes or compound heterozygotes for mutations in the GBA gene. These patients had an earlier age of onset, more severe motor impairment, poorer cognition and lower olfactory scores. They also had a higher prevalence of REM sleep behavior disorder and higher frequencies of hallucinations compared to both GBA-PD and iPD. CONCLUSIONS:The severity of PD phenotype is related to the burden of GBA mutations with GD-PD patients manifesting a more severe phenotype.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Thaler A,Gurevich T,Bar Shira A,Gana Weisz M,Ash E,Shiner T,Orr-Urtreger A,Giladi N,Mirelman Adoi
10.1016/j.parkreldis.2016.12.014subject
Has Abstractpub_date
2017-03-01 00:00:00pages
47-51eissn
1353-8020issn
1873-5126pii
S1353-8020(16)30495-3journal_volume
36pub_type
杂志文章abstract：BACKGROUND:Many patients with advanced Parkinson's disease (PD) are reluctant to undergo the subthalamic nucleus deep brain stimulation (STN-DBS) when surgery is warranted. Reasons for this reluctance have not been examined. We undertook to establish the rate and causes of this reluctance for STN-DBS in patients with a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.11.010
更新日期：2016-02-01 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：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：: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：BACKGROUND:In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.10.005
更新日期：2017-12-01 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：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：BACKGROUND:Parkinson's disease patients may be at increased risk of delirium and developing adverse outcomes, such as cognitive decline and increased mortality. Delirium is an acute state of confusion that has overlapping symptoms with Parkinson's dementia, making it difficult to identify. This study aimed to determine...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.09.025
更新日期：2019-07-01 00:00:00
abstract：:An abnormal accumulation and distribution of brain iron are common to different neurodegenerative disorders, including Parkinson's disease (PD), and alteration of genes involved in iron metabolism cause neurodegeneration with brain iron accumulation. HFE participates in the regulation of iron metabolism, its mutations...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.10.011
更新日期：2008-01-01 00:00:00
abstract：:Since the early 1970s, the literature has suggested an association between Parkinson's Disease (PD) and/or levodopa-use and an increased risk for the development of malignant melanoma. In some countries, this possible association has even led to a warning in the drug insert leaflet of the possible risk. Recently, five...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2009.05.002
更新日期：2009-09-01 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：BACKGROUND:Microstructural white matter integrity captured by diffusion-tensor imaging (DTI) is significantly more affected in progressive supranuclear palsy-Richardson's syndrome (PSP-RS) compared to PSP-parkinsonism (PSP-P). OBJECTIVES:To characterize the microstructural integrity of large fascicular bundles using s...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.02.007
更新日期：2020-03-01 00:00:00
abstract：BACKGROUND:Visual hallucinations are an important non-motor complication of Parkinson's disease (PD) and carry a negative prognosis. Their biological basis is uncertain, but may relate to the activity of resting state networks in brain. We therefore aimed to investigate functional activity of brain in patients with vis...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.11.020
更新日期：2015-02-01 00:00:00
abstract：:Serotonin (5-HT) is a monoamine neurotransmitter released throughout the brain. The serotonergic system is implicated in a host of neuropsychiatric disorders including, but not limited to, Parkinson's disease and L-DOPA-induced dyskinesia. These are pathological and drug-induced states that center on dysfunction of th...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70040-2
更新日期：2012-01-01 00:00:00
abstract：BACKGROUND:We developed a novel secured web-based dystonia video repository for the Dystonia Coalition, part of the Rare Disease Clinical Research network funded by the Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke. A critical component of phenotypic data collection fo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.01.011
更新日期：2015-04-01 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：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：BACKGROUND:Punctual delivery of dopaminergic medication to Parkinson's disease (PD) patients may be important in optimizing disease control. We tested the hypothesis that prompt delivery of l-dopa medications to emergency hospital inpatients was associated with a decreased length of stay in hospital. METHODS:The study...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.11.004
更新日期：2017-02-01 00:00:00
abstract：:To establish a clinical diagnosis of a parkinsonian disorder, physicians rely on their ability to identify relevant red flags, in addition to cardinal features, to support or refute their working diagnosis in an individual patient. The term 'red flag', was originally coined in 1989 to define the presence of non-cardin...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.10.009
更新日期：2019-02-01 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：: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：: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：:We studied daytime sleepiness in 160 patients with Parkinson's disease and 40 normal subjects. We compared the prevalence of daytime sleepiness in patients who were taking levodopa alone, levodopa with bromocriptine, levodopa with ropinirole, and levodopa with pramipexole. We found that (1) all these anti-Parkinson dr...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00076-6
更新日期：2001-10-01 00:00:00
abstract：INTRODUCTION:While metals have been implicated in the pathophysiology of Parkinson's disease (PD), the clinical evidence is scarce. Further, the contribution of metals for the risk or clinical presentation of PD remains to be explored. METHODS:To investigate the associations between the level of metals in blood serum ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.022
更新日期：2018-10-01 00:00:00
abstract：BACKGROUND:Deep brain stimulation of the internal pallidum (GPi-DBS) is effective for various types of drug-refractory primary dystonias. Rare clinical forms as dystonic camptocormia may profit but available data are scarce. METHODS:We here report on a retrospective clinical assessment of three patients with primary d...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.10.022
更新日期：2014-02-01 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：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 da...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.06.017
更新日期：2016-09-01 00:00:00
abstract：:A prevalence survey of movement disorders, epilepsy, hypertension and smoking was undertaken in Vejer de la Frontera, Southern Spain in 1988. A validated screening instrument designed for door-to-door tracing of specific disorders was used. Neurological diagnoses were based on: (1) direct anamnesis and examination by ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(96)00021-1
更新日期：1996-10-01 00:00:00
abstract：BACKGROUND:Sleep disorders occur commonly in Parkinson's disease and are often under-recognized and under treated in clinical practice. OBJECTIVES:To determine the quality of sleep in patients with Young onset Parkinson's disease (YOPD) and to note whether there is any difference in quality of sleep from those patient...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.02.007
更新日期：2015-05-01 00:00:00
abstract：INTRODUCTION:To overcome travel distance and lack of local expertise, telemedicine programs have been implemented and are still pilot programs in many jurisdictions. Patient perspectives remain poorly understood. In the largest study to date, we examined user satisfaction and predictors of patient choice to use telemed...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.02.018
更新日期：2015-05-01 00:00:00
