Abstract：
:We report here on a Japanese family in which five members in three generations developed non-progressive adult onset cortical tremor and epilepsy. Other than tremulous movements resembling essential tremor, the neurologic findings were unremarkable. Electrophysiologic studies revealed giant somatosensory evoked potentials (SEPs), enhanced long latency reflexes (C-reflex), and positive premovement cortical potentials, recorded by jerk-locked averaging, indicating cortical reflex myoclonus. The seizures were sporadic in nature and easily controlled by the anticonvulsants. The tremor also responded well to anticonvulsants such as clonazepam or sodium valproate, but not to beta-blockers. This dominantly inherited disorder should be considered in the differential diagnosis of essential tremor.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Okuma Y,Shimo Y,Hatori K,Hattori T,Tanaka S,Mizuno Ydoi
10.1016/s1353-8020(97)00001-1subject
Has Abstractpub_date
1997-04-01 00:00:00pages
83-7issue
2eissn
1353-8020issn
1873-5126pii
S1353-8020(97)00001-1journal_volume
3pub_type
杂志文章abstract：INTRODUCTION:PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. METHODS:Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evoluti...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2018.10.013
更新日期：2019-04-01 00:00:00
abstract：:Although the subspeciality of movement disorders was established in neurology more than 20 years ago, it is relatively new in Thailand, and while most physicians are generally aware of Parkinson's disease, they often are not familiar with dystonia. As one of the common movement disorders seen in general practice, a nu...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.06.014
更新日期：2011-11-01 00:00:00
abstract：BACKGROUND:X-linked dystonia-parkinsonism (XDP) is characterized by the unique transition of dystonia to parkinsonism and striatal degeneration. Slowing of saccades on clinical examination has been taken as suggestive of a progressive supranuclear palsy (PSP) phenotype. OBJECTIVES:To elucidate whether eye movement abn...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.10.016
更新日期：2019-04-01 00:00:00
abstract：BACKGROUND:Oxidative stress is causally associated with the pathogenesis of Parkinson's disease (PD). Oxygen generates a large amount of reactive oxygen species (ROS). ROS including hydroxyl radicals and H(2)O(2) react with guanine residues in DNA and produce 8-hydroxydeoxyguanosine (8-OHdG). 8-OHdG serves as a biomark...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.11.004
更新日期：2011-01-01 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：:We evaluated an association between essential tremor (ET) and the Parkinson's disease (PD) genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA). Clinical studies demonstrate an association between ET and PD, suggesting possible shared pathophysiologies, yet LRRK2 has rarely been studied in ET, and ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2009.05.008
更新日期：2010-02-01 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：INTRODUCTION:Cognitive impairment and dementia are highly prevalent non-motor complications in Parkinson's disease (PD) with deleterious consequences for patients and caregivers. With no treatment currently available, finding and validating minimally-invasive biomarkers of neurodegeneration in this population represent...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.04.009
更新日期：2020-05-01 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：:Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Currently, no curative treatments or treatments that interdict disease progression are available. Over the past decade, immunization strategies were developed in our laboratories to combat disease progression. These strategies were develo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70067-0
更新日期：2012-01-01 00:00:00
abstract：INTRODUCTION:Deep brain stimulation (DBS) is an effective treatment in medically resistant cervical dystonia (CD) with a documented therapeutic effect. Long term outcome beyond a decade, however, has not been studied systematically. METHODS:To investigate the impact of pallidal DBS beyond 10 years in CD we followed a ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.10.028
更新日期：2020-12-01 00:00:00
abstract：BACKGROUND/OBJECTIVE:Essential tremor (ET) can diminish functioning and quality of life (QOL) but generic QOL measures may be relatively insensitive to ET and its therapies. We sought to develop an ET-specific measure that might be more sensitive, acceptable to patients, relatively brief, and easily used. DESIGN/METHO...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章
doi：10.1016/j.parkreldis.2005.05.009
更新日期：2005-09-01 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: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：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：INTRODUCTION:Patients with Parkinson disease (PD) and their partners may experience a worsening of their sexual life. AIM:To assess quality of sexual life (QoSL) in male and female PD patients and their partners. MATERIALS AND METHODS:Medical, demographic and clinical data was collected regarding consecutive PD patie...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.07.003
更新日期：2014-10-01 00:00:00
abstract：:Recently, several genes for parkinsonism have been identified. Among them, familial Parkinson's disease (PD) could be assigned for PARK disorders. PARK disorders consist of three different inherited modes such as autosomal recessive, autosomal dominant modes and susceptible genes. Some of them manifest not only typica...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70003-7
更新日期：2012-01-01 00:00:00
abstract：:The aim of the present study was to evaluate complex upper limb motor function in newly diagnosed, untreated Parkinson's disease (PD) patients. Four different unimanual upper limb motor tasks were applied to 13 newly diagnosed, untreated PD patients and 13 age- and sex-matched controls. In a handwriting task, PD patie...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.07.019
更新日期：2008-01-01 00:00:00
abstract：:Parkinson's disease (PD) is characterized by a dramatic loss of dopamine that underlies complex structural and functional changes in striatal projection neurons. A key alteration that has been reported in various rodent models and PD patients is a significant reduction in striatal dendritic spine density. Our recent f...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/S1353-8020(09)70805-3
更新日期：2009-12-01 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：: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：BACKGROUND:Parkinson disease (PD) and multiple system atrophy (MSA) share some neuropathologic features (nigrostriatal dopaminergic lesion, alpha-synuclein deposition) but not others (Lewy bodies in PD, glial cytoplasmic inclusions in MSA). In PD evidence has accrued for a vesicular storage defect and decreased aldehyd...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.03.006
更新日期：2015-06-01 00:00:00
abstract：INTRODUCTION:Early Onset Parkinson's Disease (EOPD) is genetically heterogeneous. PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1.DJ1 mutations is rare and there is scarce literature on its phenotype and long term outcome. OBJECTIVES:We undertook a retrospective study to determine...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.04.024
更新日期：2016-11-01 00:00:00
abstract：INTRODUCTION:The reduction of background activity and the increase of low-frequency powers on electroencephalogram (EEG) correlate with cognitive impairment and have been suggested to be underpinned by cholinergic deficit. We aimed to investigate the ratio between α and θ band power (α/θ ratio), as a synoptic index of ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.05.007
更新日期：2020-06-01 00:00:00
abstract：BACKGROUND:Non-motor symptoms in Parkinson's disease (PD), such as cognitive, emotional, autonomic and somatosensory alterations, are not ubiquitous but vary between the tremor dominant (TD) and postural instability/gait difficulty (PIGD) subtypes of the syndrome. Non-motor phenomena (e.g., anxiety, depression and apat...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.001
更新日期：2018-08-01 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：:Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.08.008
更新日期：2008-01-01 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：UNLABELLED:Transcranial magnetic resonance imaging-guided focused ultrasound (tcMRgFUS) is a novel technique to supplement the spectrum of established neurosurgical interventions. In contrast to traditional ablative procedures, tcMRgFUS is noninvasive and entirely imaging-guided with continuous temperature measurements...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(13)70046-4
更新日期：2014-01-01 00:00:00
abstract：:The present report documents a patient harboring an alpha-synuclein p.A53T variant from a family presenting with autosomal dominant inheritance, including four patients clinically diagnosed with Parkinson's disease (PD) and two with dementia. The alpha-synuclein p.A53T variant is linked to young- or middle-aged onset ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.11.001
更新日期：2020-12-01 00:00:00
