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 of myoclonus-dystonia is incompletely understood, although it may relate to dysfunction of striatal monoamine neurotransmission or disruption of cerebellothalamic networks (possibly via a GABAergic deficit of Purkinje cells). A broad range of oral medical therapies have been used in the treatment of myoclonus-dystonia with a varying response, and limited data relating to efficacy and tolerability, yet this condition responds dramatically to alcohol. Few well conducted randomized controlled trials have been undertaken leading to an empirical ad hoc approach for many patients. We review the current evidence for pharmacological therapies in myoclonus-dystonia, discuss implications for underlying pathogenesis of the condition and propose a treatment algorithm for these patients.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Fearon C,Peall KJ,Vidailhet M,Fasano Adoi
10.1016/j.parkreldis.2020.06.016subject
Has Abstractpub_date
2020-08-01 00:00:00pages
48-56eissn
1353-8020issn
1873-5126pii
S1353-8020(20)30193-0journal_volume
77pub_type
杂志文章,评审abstract：:Impulsive personalities are considered to have a general impairment in cognitive flexibility and cortical inhibition. To examine this hypothesis we used a trial by trial Stroop task in impulsive and non impulsive patients with Parkinson's disease (PD) and recorded errors and reaction times (RT). We tested 28 impulsive...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.12.014
更新日期：2011-03-01 00:00:00
abstract：INTRODUCTION:Pimavanserin is a selective 5-HT2A inverse agonist/antagonist approved for treating hallucinations and delusions associated with Parkinson's disease psychosis (PDP). Results from short-term, placebo-controlled studies demonstrated a positive benefit/risk profile. This multi-year, open-label study assessed ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.06.026
更新日期：2020-08-01 00:00:00
abstract：:Forty patients with Parkinson's disease (PD) were studied to explore the relationship between aspects of psychological functioning (depression, problems in motoric, cognitive and psychological areas) and physical illness (stage and duration of illness, functional disability, global cognitive status). Depression, motor...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00010-9
更新日期：2000-07-01 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: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：: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：:Clinical symptoms in Parkinson's disease (PD) comprise both motor and non-motor symptoms. In this disease, synucleinopathic-induced, nigral dopamine deficiency-related dysfunction of the basal ganglia is held responsible for the characteristic levodopa-responsive motor signs and symptoms (bradykinesia, hypokinesia, ri...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(09)70770-9
更新日期：2009-12-01 00:00:00
abstract：:The adenosine A2A receptor is a major target of caffeine, the most widely used psychoactive substance worldwide. Large epidemiological studies have long shown caffeine consumption is a strong inverse predictor of Parkinson's disease (PD). In this review, we first examine the epidemiology of caffeine use vis-à-vis PD a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.10.024
更新日期：2020-11-01 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：: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：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:Deep brain stimulation of the subthalamic nucleus (STN-DBS) reduces motor fluctuations in Parkinson's disease (PD) but its effect on non-motor fluctuations (NMF) is not well known. In this study we assess the efficacy of STN-DBS on NMF two years after surgery. METHODS:Autonomic, cognitive, psychiatric and s...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.02.001
更新日期：2013-05-01 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：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：:The immunohistochemical demonstration of reactive microglia and activated complement components suggests that chronic inflammation occurs in affected brain regions in Parkinson's disease (PD). Evidence from humans and monkeys exposed to MPTP indicates this inflammation may persist many years after the initial stimulus...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2004.01.005
更新日期：2004-05-01 00:00:00
abstract：:A 68-year-old, normal female volunteer was scanned by positron emission tomography (PET) with [(18)F]6-L-fluorodopa (FD). Striatal FD uptake was in the high normal range. Subsequently, she developed parkinsonism 3.7 years after the scan. A repeat FD PET scan revealed a significant reduction of FD uptake by 20% over th...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/1353-8020(96)00010-7
更新日期：1996-07-01 00:00:00
abstract：:It has become increasingly apparent that Parkinson's disease (PD) can no longer be considered purely a motor disease, as numerous sensory alterations accompany this disorder either before or early in its clinical progression. Most notable among such disturbances are decrements in smell function. Such anomalies have be...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(08)70006-3
更新日期：2007-01-01 00:00:00
abstract：:We report 27 cases of delayed-onset dystonia in patients with antecendents of perinatal asphyxia after excluding other possible causes of dystonia. The patients were 16 males and 11 females (mean +/- SD age at onset of dystonia = 13.0 +/- 9.4 yr). Adverse obstetric and/or perinatal events were presented by 20 patients...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(96)00035-1
更新日期：1997-01-01 00:00:00
abstract：INTRODUCTION:Post-operative programming of deep brain stimulation for movement disorders can be both time consuming and difficult, which can delay the optimal symptom control for the patient. Probabilistic maps of stimulation response could improve programming efficiency and optimization. METHODS:The clinically select...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.09.004
更新日期：2014-12-01 00:00:00
abstract：:The authors report one case of parkinsonism associated with systemic lupus erythematosus (SLE): a 45-year-old woman, who presented with a strategic infarct of the right substance nigra secondary to vasculitis, and contralateral symptoms. Other causes of parkinsonism were excluded. She had a partial response to therapy...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.08.001
更新日期：2008-01-01 00:00:00
abstract：PURPOSE:A systematic meta-analysis of published studies on the diagnostic accuracy of presynaptic dopaminergic imaging with ¹²³I-FP-CIT (DaTSCAN) in dementia with Lewy bodies (DLB). METHODS:We included (a) studies in which DaTSCAN was performed in cases of diagnostic uncertainty to differentiate between DLB and non-DL...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.parkreldis.2011.09.015
更新日期：2012-03-01 00:00:00
abstract：BACKGROUND:A novel homozygous missense mutation (c.773G > A, p.Arg258Gln) in Synaptojanin 1 (SYNJ1, 21q22.2) has recently been reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism (ARJP). Contribution of this synaptic gene related to Parkinsonism phenotypes in o...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.07.014
更新日期：2016-10-01 00:00:00
abstract：BACKGROUND:Hallucinations are a frequent and severe complication in Parkinson's disease (PD). Minor hallucinations are generally not disturbing, but likely progress to well-structured hallucinations with loss of insight and a great impact on quality of life. Knowledge on the neural bases of minor hallucinations may hel...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.11.017
更新日期：2014-03-01 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：: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：UNLABELLED:Some recent studies indicate that most essential tremor (ET) cases have cerebellar pathology characterized by Purkinje cell (PC) loss and its sequelae. OBJECTIVE:To assess the role of PC degeneration in ET symptomatology. METHODS:We studied seven ET, six tremor dominant Parkinson's disease controls and two...
journal_title：Parkinsonism & related disorders
pub_type： 评论,杂志文章
doi：10.1016/j.parkreldis.2011.05.008
更新日期：2011-07-01 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：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：:Relatively early seminal investigations on 'mammalian alkaloid biosynthesis'-endogenous Pictet-Spengler condensations of catecholamines or indoleamines with aldehydes (such as acetaldehyde from ethanol metabolism) to form tetrahydroisoquinoline or beta-carboline alkaloids-and the roles of mammalian alkaloids in the CN...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/s1353-8020(02)00024-x
更新日期：2002-09-01 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
