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 typical parkinsonism, but also dystonia, pyramidal sign, and mental dysfunctions. While the monogenic forms of PARK disorders have been reviewed extensively, it is not easy to do differential diagnosis of PARK disorders due to the additional features except for typical parkinsonism. In this presentation, we focus on two different scenarios of patients with autosomal dominant parkinsonism: (1) parkinsonism with mutations in one of the PARK genes; (2) parkinsonism with mutations other than PARK genes or yet other genes where parkinsonism is a well recognized, concomitant, or even an isolated feature.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Hattori Ndoi
10.1016/S1353-8020(11)70003-7subject
Has Abstractpub_date
2012-01-01 00:00:00pages
S1-3eissn
1353-8020issn
1873-5126pii
S1353-8020(11)70003-7journal_volume
18 Suppl 1pub_type
杂志文章,评审abstract：INTRODUCTION:Fatigue is one of the most common and disabling non-motor symptoms in Parkinson's disease (PD). The objective of this study was to determine prevalence and motor, behavioural, and cognitive correlates of distressing fatigue in early, de novo PD patients. METHODS:Eighty-one consecutive de novo PD patients ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.10.004
更新日期：2017-12-01 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：: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：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：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：:Excessive daytime sleepiness (EDS) is common in Parkinson's Disease (PD). Actigraphy uses periods of immobility as surrogate markers of nighttime sleep but there are no examples of its use in assessing EDS of PD. A commercial wrist worn system for measuring bradykinesia and dyskinesia also detects 2 min periods of imm...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.02.011
更新日期：2014-06-01 00:00:00
abstract：INTRODUCTION:The frequency and causes of hypertrophic olivary degeneration (HOD) are unknown. We compared the clinical and radiological characteristics of unilateral HOD and bilateral HOD. METHODS:We performed a search of a radiologic report database for patients who were radiologically diagnosed as having HOD. This d...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.04.008
更新日期：2016-07-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to compare the short- and long-term outcomes of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) patients with and without probable REM sleep behavior disorder (RBD). METHODS:We retrospectively reviewed 127 patients who underwent bilateral S...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.06.031
更新日期：2020-12-01 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：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 a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.12.014
更新日期：2017-03-01 00:00:00
abstract：INTRODUCTION:Inconsistent results regarding the association between the components of metabolic syndrome and Parkinson's disease (PD) have been reported. We investigated whether the metabolic syndrome or its components, or serum total cholesterol, predict PD incidence in a prospective cohort study design. METHODS:The ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.07.017
更新日期：2015-10-01 00:00:00
abstract：:Parkinson's disease (PD) is a common neurodegenerative disorder of unknown cause. For decades, a deficit in mitochondrial respiration was thought to be a key factor in PD neurodegeneration. However, excluding a few exceptions where a clinical picture of parkinsonism is associated with a mitochondrial DNA mutation, pre...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/S1353-8020(09)70823-5
更新日期：2009-12-01 00:00:00
abstract：OBJECTIVE:The object of the present study was to evaluate whether patients with neurolathyrism (NL) have cognitive abnormalities, and whether the cognitive decline, if found, correlates with the motor deficit. BACKGROUND:NL is a neurological syndrome that develops following ingestion of the grass pea (Lathyrus Sativus...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(99)00016-4
更新日期：1999-04-01 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：: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 aim of this study was to assess the middle latency auditory evoked potential (MLAEP) findings in idiopathic Parkinson's disease (IPD) and in patients who are regarded as having atypical parkinsonian disorders (AP) and to determine whether MLAEPs could contribute to the differential diagnosis of IPD and AP.MLAEPs w...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(99)00056-5
更新日期：2000-04-01 00:00:00
abstract：:The interactive effects of neonatal iron and adult MPTP treatment groups of C57 Bl/6 mice were studied through adminustration of iron (Fe(2+)) 7.5mg/kg b.w., p.o. or vehicle (saline) on days 10-12 post partum, followed at 3months of age by administration of either MPTP (2x20 or 2x40mg/kg, s.c.) or saline. Neonatal iro...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00028-6
更新日期：2001-04-01 00:00:00
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 ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.08.001
更新日期：2015-10-01 00:00:00
abstract：OBJECTIVE:The primary objective was to evaluate the efficacy and safety of droxidopa as add-on therapy in improving stiffness, tremors and other motor functions and activities of daily living for moderate-to-severe Parkinson's disease (PD). METHODS:PD patients, above Hoehn-Yahr III (including Hoehn-Yahr III), were ran...
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.2015.08.023
更新日期：2015-10-01 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：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：:Sex-linked dystonia parkinsonism (XDP) was reported by Lee et al. in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex-linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalization. The movement disorder is characterized by dysto...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/s1353-8020(02)00042-1
更新日期：2002-10-01 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：: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：: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：:Significant advances in the symptomatic treatment of Parkinson disease (PD) have occurred since the discovery of levodopa (LD). Perhaps as a testament to its unparalleled efficacy, novel formulations aiming to optimize LD delivery to obtain better bioavailability, longer duration of effect and less plasma level fluctu...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2019.01.002
更新日期：2019-02-01 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：BACKGROUND:DBS is a well-established therapy for patients with PD and is an emerging therapy for other neuropsychiatric disorders. Despite the rise in DBS usage, relatively little is known about the tissue and cellular responses to DBS. PURPOSE:To examine post-mortem effects of DBS leads by objectively quantifying gli...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.04.009
更新日期：2018-09-01 00:00:00
abstract：OBJECTIVE:To investigate whether dopamine transporter (DAT) binding, as measured with single photon emission computed tomography (SPECT), can be used to predict mortality in patients with Parkinson's disease (PD). METHODS:A total of 162 patients with PD and abnormal [I-123]FP-CIT SPECT were clinically followed for a m...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.06.013
更新日期：2017-09-01 00:00:00
abstract：:Autosomal recessive juvenile parkinsonism (ARJP/PARK2) is a distinct clinical and genetic entity characterized by early-onset levodopa-responsive parkinsonism, foot dystonia, sleep benefit, and hyperactive tendon reflexes. We report a patient with genetically confirmed ARJP, who showed mild sensory disturbance and dim...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00114-1
更新日期：2003-06-01 00:00:00
