Abstract:
:Over the last decade, several autosomal dominant and recessive genes causative of Parkinson's disease (PD) have been identified. The functional studies on their protein products and the pathogenetic effect related to their mutations have greatly contributed to understand the many cellular pathways leading to neurodegeneration, that include oxidative stress damage, mitochondrial dysfunction, misfolded protein stress and impairment of cellular clearance systems, namely the ubiquitin-proteasome system (UPS) and the autophagy pathway. Although mendelian genes are responsible only for a small subset of PD patients, it is expected that the same pathogenetic mechanisms could play a relevant role also in the more frequent sporadic PD, that is currently recognized as a multifactorial disorder. In this model, different genetic and environmental factors, either playing a protective or a susceptibility role, variably interact to reach a threshold of disease over which PD will become clinically manifest. As an example, mutations or multiplication of the alpha-synuclein gene cause autosomal dominant PD, while common genetic variants at the same locus have been consistently associated to the risk of developing PD by genome-wide association studies. These findings are opening novel interesting perspectives to identify critical molecular pathways leading to neurodegeneration.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Valente EM,Arena G,Torosantucci L,Gelmetti Vdoi
10.1016/S1353-8020(11)70023-2subject
Has Abstractpub_date
2012-01-01 00:00:00pages
S71-3eissn
1353-8020issn
1873-5126pii
S1353-8020(11)70023-2journal_volume
18 Suppl 1pub_type
杂志文章,评审abstract::Cerebrospinal fluid (CSF) levels of neurofilament light protein (NFL), a marker of neuronal damage, are normal in Parkinson's disease (PD) but elevated in multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). Therefore, CSF NFL can help differentiate between PD on one hand and MSA/PSP on the other. I...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.07.007
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND:In Parkinson's disease (PD), abnormalities of speech rate have been observed in spontaneous speech, reading tasks and syllable repetition tasks. Impaired temporal speech patterns have been contributed to dysfunctional basal ganglia circuits, but little is known about a possible differential role of right and...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2011.11.021
更新日期:2012-05-01 00:00:00
abstract:INTRODUCTION:Cognitive dysfunction is common in progressive supranuclear palsy (PSP) but its effect on medical decision-making has not been well studied. To address this gap in the research literature, we compared the medical decision-making capacity of patients with PSP to groups of patients with other neurodegenerati...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.11.022
更新日期:2019-04-01 00:00:00
abstract::Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.09.009
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:The prevalence and clinical correlates of drooling in Chinese patients with Parkinson disease (PD) are unknown. METHODS:A cross-sectional analysis of 518 Chinese patients with PD was conducted. Assessments included Unified PD Rating Scale (UPDRS), Non-Motor Symptoms Scale (NMSS), Hamilton Depression Scale (...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.12.004
更新日期:2015-03-01 00:00:00
abstract::This case series describes the inpatient rehabilitation of two medically complex patients with Parkinson's disease (PD) who had undergone deep brain stimulator (DBS) placement. Most patients may not require inpatient rehabilitation. However, a short rehabilitation stay might be of use to patients who need to be weaned...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.07.002
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION:The age of diagnosis of Huntington's disease (HD) varies among individuals with the same HTT CAG-repeat expansion size. We investigated whether early-life events, like perinatal insults or neurodevelopmental disorders, influence the diagnosis age. METHODS:We used data from 13,856 participants from REGISTR...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2018.05.016
更新日期:2018-10-01 00:00:00
abstract:BACKGROUND:Deep brain stimulation (DBS) is a well-established treatment for Parkinson's disease (PD). Optimization of DBS settings can be a challenge due to the number of variables that must be considered, including presence of multiple motor signs, side effects, and battery life. METHODS:Nine PD subjects visited the ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.01.018
更新日期:2015-04-01 00:00:00
abstract::Approximately 10% of patients with a presumed diagnosis of Parkinson's disease (PD) remain misdiagnosed despite recent advances in neuroimaging. The current study addresses the use of transcranial sonography and single-photon emission computed tomography (SPECT) using (99m)Tc-TRODAT-1 to evaluate the echogenicity of t...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.01.015
更新日期:2014-05-01 00:00:00
abstract::The pedunculopontine nucleus (PPN) is a brainstem locomotive center that also processes sensory and behavioral information. Through its connections with basal ganglia structures and the spinal cord, the PPN may play a role in axial motor symptoms in Parkinson's disease (PD). We review the anatomical features of the PP...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(08)70016-6
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Recent evidence suggests deep brain stimulation can alter impulse control. Our objective was to prospectively evaluate the effects of subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation on impulse control disorders (ICDs) in the setting of a conservative dopamine reduction s...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.08.006
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Multiple system atrophy (MSA) can clinically be divided into the cerebellar (MSA-C) and the parkinsonian (MSA-P) variants. It is unknown whether the variation in clinical expression is also reflected by a different underlying neurochemical profile. METHODS:We analyzed brain specific proteins and neurotransm...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.02.002
更新日期:2007-12-01 00:00:00
abstract::The present study demonstrated that individuals with Parkinson's disease display impairments in making profitable decisions, as evidenced by poorer performance on the Iowa Gambling Task relative to matched controls. The ability to make beneficial judgments solely correlates with ability to appropriately attribute inte...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2005.12.003
更新日期:2006-04-01 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:This study of thalamic deep brain stimulation (DBS) investigated whether a novel constant-current device improves tremor and activities of daily living (ADL) in patients with essential tremor (ET). METHODS:A prospective, controlled, multicenter study was conducted at 12 academic centers. We investigated t...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2017.03.017
更新日期:2017-07-01 00:00:00
abstract::Invasive human brain recordings have shown that acute therapeutic deep brain stimulation (DBS) reduces cortical synchronization, measured by coupling of beta phase to gamma amplitude. Here we show by noninvasive scalp electroencephalography that withdrawal of chronic DBS elevates phase-amplitude coupling, in proportio...
journal_title:Parkinsonism & related disorders
pub_type: 信件
doi:10.1016/j.parkreldis.2019.08.018
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:Gait dysfunction is a common symptom of Parkinson's disease that can cause significant disability and put patients at risk for falls. These symptoms show variable responsiveness to dopaminergic therapy. OBJECTIVE:To determine whether dopaminergic (rs1076560 DRD2 G > T and rs4680 catechole-o-methyltransphera...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.12.010
更新日期:2018-03-01 00:00:00
abstract::Laryngeal hypokinesia is a common symptom in Parkinson's disease (PD) that affects quality of life. Deep brain stimulation (DBS) is well recognized as a complementary method for treatment of motor symptoms in PD but the outcomes on patients' control over phonatory alternation have yet not been clearly elucidated. The ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.03.025
更新日期:2012-08-01 00:00:00
abstract:PURPOSE:The young-onset subtype of Parkinson's disease (YOPD) differs from the late-onset subtype (LOPD) in drug responsiveness, incidence of motor complications, and prognosis. The pathophysiology underlying these differences remains largely unknown. This study investigated whether the two subtypes differ in the patte...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.10.017
更新日期:2015-12-01 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: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::The goal of genetic association studies is to identify common (>5%) risk factors in complex disease traits. Herein we describe the first replicable 'functional' risk allele for Parkinson's disease. The leucine-rich repeat kinase 2 (Lrrk2) G2385R substitution is associated with familial parkinsonism, late-, and early-o...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.12.001
更新日期:2007-03-01 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:Lower levels of physical activity are associated with lower Health-Related Quality of Life (HRQoL) in Parkinson's disease (PD). We evaluated the influence of quantitative physical activity parameters among other (disease-related) features representing other domains of the WHO International model for classifi...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.12.023
更新日期:2018-03-01 00:00:00
abstract:INTRODUCTION:Tremor is frequently associated with dystonia, but its pathophysiology is still unclear. Dysfunctions of cerebellar circuits are known to play a role in the pathophysiology of action-induced tremors, and cerebellar impairment has frequently been associated to dystonia. However, a link between dystonic trem...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.06.011
更新日期:2016-10-01 00:00:00
abstract::Hemifacial spasm (HFS) resulting from Chiari type I malformation (CIM) is rare. We retrospectively evaluated five patients with CIM and HFS among a series of 103 subjects. The frequency of HFS associated to CIM was of 4.85%. The clinical profile did not differ from the classical primary cases except for young-onset de...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.04.002
更新日期:2008-01-01 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:Deep brain stimulation of subthalamic nucleus (STN-DBS) for Parkinson's disease allows for a reduction in medication dosage. Changes in total levodopa equivalent daily dose (LEDD) have been frequently reported, there is little information about changes within the drug classes. METHODS:We retrospectively a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.03.003
更新日期:2015-06-01 00:00:00
abstract::Mean body mass index (BMI) in 100 cases of idiopathic Parkinson's disease (PD) was found to be 9% reduced in comparison to that in patients with either essential tremor or no neurologic disease. A similar reduction in BMI was also discovered among the 24 cases of PD in whom retrospective BMI data were available from t...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2004.07.001
更新日期:2005-01-01 00:00:00
abstract::In this study we aimed to investigate the effects of bilateral STN HFS in patients with advanced Parkinson disease (PD) at long-term, with a minimum follow-up of 4 years. Twenty patients (15 men, five women) were included, with a mean age of 60.9+/-8.1 years. Surgery was performed under local anesthesia. The target wa...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2004.10.011
更新日期:2005-05-01 00:00:00