Abstract：
BACKGROUND:Although essential tremor (ET) is commonly encountered in clinical practice, historically, there has been considerable disagreement as how to best define it, and now with a growing sense of its clinical complexity, how to best encapsulate it. Here, I draw attention to five issues of current uncertainty. METHODS:A PubMed search conducted on June 19, 2017 crossed "essential tremor" with 9 second search terms (e.g., definition, diagnosis). RESULTS:There are several major issues of clinical and diagnostic uncertainty. Underlying each issue is a larger question about the nature of the underlying pathophysiology of ET. Does age of onset of ET matter? How much dystonia is acceptable in ET? How much in the way of "cerebellar signs" are acceptable? Are non-motor features due to the underlying disease or merely secondary to the clinical features? Is ET a single disease entity or something else? CONCLUSIONS:We are learning more about ET and, as a by-product of these efforts, are struggling with its definition. Further understanding the nature of the underlying disease pathogenesis as well as the role the cerebellum and cerebellar relays play in this process will likely provide important clues to enable us to bring order to areas of uncertainty.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Louis EDdoi
10.1016/j.parkreldis.2017.07.004subject
Has Abstractpub_date
2018-01-01 00:00:00pages
S87-S91eissn
1353-8020issn
1873-5126pii
S1353-8020(17)30237-7journal_volume
46 Suppl 1pub_type
历史文章,杂志文章,评审abstract：:There has been a tremendous development since a regional progression of pathology in subjects with Lewy bodies (LB) was initially proposed 30 years ago. The entity of dementia with Lewy bodies has been acknowledged, the main protein constituent of LBs--aggregated α-synuclein (αS)--has been identified and a stepwise pr...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(13)70016-6
更新日期：2014-01-01 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：: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：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：OBJECTIVES:Limited data currently exists within the UK addressing the level of Parkinson's disease (PD) healthcare provision. We investigated whether care for PD patients in a UK community met national guidelines, and the determinants of sub-optimal care for this patient group. METHODS:340 PD patients were identified ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.12.012
更新日期：2011-03-01 00:00:00
abstract：:We describe a 30-year-old woman who suffered from an unusual task-specific focal hand dystonia, which dominantly occurred with use of a spoon; there were no other activities affected, except for mild writer's dystonia on same side. This is the first report of a spoon-related focal dystonia. ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2006.12.008
更新日期：2008-01-01 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：BACKGROUND:Somatosensory abnormalities contribute to the pathophysiology of Parkinson's disease (PD). The goal of this study was to identify abnormalities in the tactile-evoked activation of the somatosensory and motor cortices in PD, and in a sensorimotor circuit that traverses both of these cortical loci. The second ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.002
更新日期：2018-08-01 00:00:00
abstract：:Involuntary movements are not a known feature of vitamin B12 (vB12) deficiency in adults, though they are a characteristic feature of vB12 deficiency in infants. This case report presents an adult patient with vB12 deficiency in whom, myoclonus-like muscular contractions appeared soon after the initiation of vB12 and ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(03)00065-8
更新日期：2003-10-01 00:00:00
abstract：INTRODUCTION:Cognitive impairment can occur in the early phase of Parkinson's disease and increases the risk of developing dementia. Cognitive deficits were shown to be associated with functional alterations in the dorsolateral prefrontal cortex (DLPFC) and caudate nucleus. Two previous transcranial magnetic stimulatio...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.parkreldis.2019.07.006
更新日期：2019-09-01 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：: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：:Serious adverse effects with antichoreic drugs can occur in patients with acute Sydenham's chorea (SC). The response to conventional treatment in severe SC may also be poor. Thus alternative therapeutic strategies have been developed. We report on four patients with severe acute SC (two with chorea paralytica and two ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.02.007
更新日期：2005-08-01 00:00:00
abstract：OBJECTIVES:Dissatisfaction with subthalamic deep brain stimulation (STN-DBS) despite motor improvements has been observed in Parkinson's disease (PD). Hence, we compared patient's subjective perceived outcome 12 months after surgery (12mFU) with clinical measures to identify risk factors of dissatisfaction. METHODS:Pa...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.01.019
更新日期：2016-03-01 00:00:00
abstract：:Tardive dyskinesia (TD) is a common, iatrogenic movement disorder affecting many individuals treated with dopamine-receptor blocking agents (DRBAs). Studying treatment of TD can be complex, as the symptoms can be affected by changes in either dosage or type of DRBA, as well as by the variable natural course of the dis...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2018.12.022
更新日期：2019-02-01 00:00:00
abstract：OBJECTIVE:To examine the tolerability and effectiveness of propranolol in treating tardive dyskinesia (TD). BACKGROUND:TD is a disabling, often irreversible, movement disorder that results from chronic therapy with dopamine receptor blocking drugs. There are no treatments currently approved for this disorder. Proprano...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.09.004
更新日期：2016-11-01 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：:Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. An association with sleep breathing disorder has not previously been established in the literature. We report the case of a 45-year-old woman with HD, presenting with snoring and observed apnea. Polysomnography showed obstructive sleep apne...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.01.005
更新日期：2005-06-01 00:00:00
abstract：INTRODUCTION:Continuous infusion of levodopa/carbidopa intestinal gel (LCIG) is an effective treatment for patients with advanced Parkinson Disease (PD) that cannot be further improved by oral therapy. METHODS:We conducted an observational, prospective, and multicenter study to collect, in a large sample of PD treated...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2015.05.014
更新日期：2015-08-01 00:00:00
abstract：BACKGROUND:Brain iron disequilibrium and dopaminergic dysfunction are key pathophysiological features of Restless Legs Syndrome (RLS). Rep1 polymorphism in the promotor region of SNCA is associated with risk of Parkinson's disease, however its association with RLS and iron status is unclear. OBJECTIVE:To investigate S...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.09.015
更新日期：2020-12-01 00:00:00
abstract：:Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilon-sarcoglycan gene but the syndrome of "myoclonic dystonia" has been shown to be a heterogeneous group of genetic disorders. The underlying pathophysiology o...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2020.06.016
更新日期：2020-08-01 00:00:00
abstract：:The opsoclonus-myoclonus syndrome is a pathological condition characterized mainly by involuntary myoclonic movements involving ocular, trunk and limb muscles associated with ataxia and other neurological signs.We describe the case of a 30-year-old woman who developed this syndrome 15days after anti-Rubella vaccinatio...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00020-1
更新日期：2000-10-01 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：BACKGROUND:Autosomal-dominant striatal degeneration (ADSD) is a rare neurodegenerative movement disorder caused by mutations in the Phosphodiesterase 8B (PDE8B) gene. OBJECTIVE:To summarize the clinical and imaging features of a Chinese ADSD family and determine whether mutations in PDE8B are associated with Parkinson...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.11.002
更新日期：2019-12-01 00:00:00
abstract：BACKGROUND:Essential tremor is the most common movement disorder in adults, but its exact etiology and pathophysiology are still not fully understood. There is some consensus, however, about the involvement of the cerebellum and accumulating evidence points towards a dysfunction of the gabaergic system. We hypothesize ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2012.04.024
更新日期：2012-08-01 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：:Antiparkinsonian drugs are thought to act largely through the D2 receptor family that includes the D(2) and D(3) receptors. D(2) and D(3) receptors exhibit both complementary and overlapping expression at the macro and cellular level. The D(3) receptor appears to be a primary target of the mesolimbic dopamine system, ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00060-2
更新日期：2001-07-01 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：: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：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
