Abstract：
BACKGROUND:In addition to the most frequent TOR1A/DYT1 mutation (c.907_909delGAG), a growing number of TOR1A sequence variants are found in dystonia patients. For most, functional characterization has demonstrated pathogenicity at different levels, implying that TOR1A genetic testing should not be limited to screening for c.907_909delGAG. METHODS:We tested 461 Serbian patients with isolated or combined dystonia for changes in the TOR1A gene and performed a systematic literature review of the clinical characteristics of patients carrying TOR1A mutations other than c.907_909delGAG. RESULTS:One likely pathogenic TOR1A mutation (c.385G>A, p.Val129Ile) was detected in an adult-onset cervical dystonia patient. This change is in proximity to the previously reported p.Glu121Lys mutation and predicted to decrease the stability of TOR1A-encoded protein TorsinA. CONCLUSIONS:Our patient and three other reported carriers of non-c.907_909delGAG-mutations within the first three exons of TOR1A showed similar phenotypes of adult-onset focal or segmental cervical dystonia. This observation raises the possibility of genotype-phenotype correlations in DYT1 and indicates that the clinical spectrum of this type of dystonia might be broader then previous classic descriptions.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Dobričić V,Kresojević N,Žarković M,Tomić A,Marjanović A,Westenberger A,Cvetković D,Svetel M,Novaković I,Kostić VSdoi
10.1016/j.parkreldis.2015.08.001subject
Has Abstractpub_date
2015-10-01 00:00:00pages
1256-9issue
10eissn
1353-8020issn
1873-5126pii
S1353-8020(15)00317-Xjournal_volume
21pub_type
杂志文章abstract：:We describe the outcome of deep brain stimulation of the internal pallidum in a 57-year old patient with multiple system atrophy. Although the prominent dystonic features of this patient were markedly attenuated post-operatively, the outcome was to be considered unfavourable. There was a severe increase in akinesia re...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.08.004
更新日期：2006-04-01 00:00:00
abstract：:The ataxias are a group of progressive neurodegenerative disorders with ataxia as the leading symptom. Current classifications distinguish between hereditary and non-hereditary ataxias. The hereditary ataxias are further divided into the autosomal recessive ataxias, the most frequent of which is Friedreich's ataxia, a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(08)70036-1
更新日期：2007-01-01 00:00:00
abstract：:The purpose of the study was to assess the validity and reliability of the Parkinson's disease questionnaire (PDQ-39, UK English version) as well as its briefer version (the PDQ-8) among Asian patients with Parkinson's disease (PD) in Singapore. Eighty-eight patients recruited from movement disorder clinics or patient...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2004.05.007
更新日期：2004-12-01 00:00:00
abstract：OBJECTIVES:Longitudinal assessment of a Parkinson's disease (PD) cohort, to investigate the evolution or REM sleep behavior symptoms (RBD) over time and to test the relation between RBD at onset and motor dysfunction progression. METHODS:An early stage PD cohort (n = 61) was assessed at two time points, separated by a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.07.017
更新日期：2013-12-01 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：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: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：INTRODUCTION:Head tremor is a common feature in cervical dystonia (CD) and often less responsive to botulinum neurotoxin (BoNT) treatment than dystonic posturing. Ultrasound allows accurate targeting of deeper neck muscles. METHODS:In 35 CD patients with dystonic head tremor the depth and thickness of the splenius cap...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.07.034
更新日期：2017-11-01 00:00:00
abstract：:Abnormally aggregated tau protein is central to the pathophysiology of Alzheimer's disease, frontotemporal dementia variants, progressive supranuclear palsy, corticobasal degeneration and chronic traumatic encephalopathy. The post-mortem cortical density of hyperphosphorylated tau tangles correlates with pre-morbid co...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2015.08.011
更新日期：2016-01-01 00:00:00
abstract：INTRODUCTION:Two phase3 studies (SP512; SP513) involving mostly Caucasian patients showed that rotigotine (≤8 mg/24 h) was efficacious and welltolerated in early-stage Parkinson's disease (PD). We report results from a phase 3 study (SP0914/NCT01646268) investigating rotigotine in Chinese patients with early-stage PD. ...
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.2016.04.022
更新日期：2016-07-01 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:There are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil. METHODS:Neurological and clinical...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.10.027
更新日期：2019-04-01 00:00:00
abstract：:A previously healthy 10-year-old girl developed a right hemiparesis with sensory loss secondary to a posterolateral thalamic infarct. Despite improvement in strength, three weeks later a 4 Hz kinetic tremor appeared in the right hand accompanied by dystonia in the right upper and lower limbs. Basal ganglia vascular le...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(98)00029-7
更新日期：1998-10-01 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：:Corticobasal degeneration (CBD) presents with symptoms that often overlap with other neurological conditions. In many cases, diagnosis, prognosis and consequent clinical management remain uncertain. Structural and functional asymmetric brain changes represent the most consistent imaging findings that may assist in CBD...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.09.011
更新日期：2008-01-01 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: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：: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：:Patients with idiopathic Parkinson's disease (PD) have impaired sympathetically mediated neurocirculatory innervation. Here we analyzed the correlation between cardiac (123)I-metaiodobenzylguanidine (MIBG) uptake, orthostatic hypotension and heart rate variability in treated patients with PD. Orthostatic hypotension (...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2008.04.031
更新日期：2009-02-01 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：:Tardive syndromes (TS) encompass a broad spectrum of abnormal movements due to chronic exposure to dopamine receptor blocking agents. This review provides a compiled update on TS, including phenomenology, epidemiology, pathophysiology, genetic correlations and therapeutics, highlighting the emerging experience with at...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(13)70028-2
更新日期：2014-01-01 00:00:00
abstract：:Approximately two thirds of Parkinson's disease (PD) patients exhibit bothersome pain symptoms that oftentimes go unrecognized. In this study, 14 patients with PD volunteered to complete a computerized version of the McGill Pain Questionnaire using the PAINReportIt interactive software to assess the feasibility of acq...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2009.07.001
更新日期：2010-02-01 00:00:00
abstract：PURPOSE:To assess optimism/pessimism and locus of control in a sample of Parkinson's disease patients and to evaluate their impact on disability and health-related quality of life. METHODS:99 patients with Parkinson's disease completed the Life Orientation Test, Multidimensional Health Locus of Control, Older American...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2009.03.005
更新日期：2009-11-01 00:00:00
abstract：INTRODUCTION:Neurotrophic factors (NTFs) have been evaluated for neuroprotective effects in Parkinson's disease (PD). However, clinical trials examining the efficacy of intracerebral administration of NTFs on motor symptoms in PD have produced mixed results, and are thus inconclusive. The objective of this systematic r...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.parkreldis.2017.02.011
更新日期：2017-05-01 00:00:00
abstract：INTRODUCTION:We aimed to assess, in patients with Parkinson's disease (PD), the association between obstructive sleep apnea (OSA), progression of motor dysfunction and the effect of OSA treatment. METHODS:Data were analysed from a prospective cohort study of idiopathic PD patients from a movement disorders clinic. Pat...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.12.001
更新日期：2020-01-01 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：: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：: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：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：INTRODUCTION:Patients with Parkinson's disease (PD) frequently lose weight, even in the early stages of the disease. Our objective was to clarify the association between low body mass index (BMI) and life prognosis in PD. METHODS:We conducted a retrospective cohort study of 651 PD patients (380 females), with a primar...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.011
更新日期：2018-10-01 00:00:00
