Abstract：
:The alpha-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson Disease (PD): triplication is associated with early-onset rapidly progressing parkinsonism with a strong likelihood of developing dementia, while duplication is associated with a less severe phenotype similar to idiopathic PD. We tested for SNCA multiplication 144 unrelated PD patients with a dominant family history. We identified one patient with SNCA duplication (0.7%). The SNCA-duplicated patient was a woman of 45 years of age with PD onset at 41 years of age. She experienced a rapidly progressive disease with early motor complications (on/off fluctuations and dyskinesias). Medical records confirmed that the proband's mother developed PD at 47 years of age and died at 63 with dementia. She experienced rapid progression in both motor and cognitive symptoms: development of dementia at 54 years of age, 7 years after onset. Although SNCA duplication is an unusual cause of familial PD testing for it is worthwhile. The clinical presentation of duplicated cases may be more aggressive than usual.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Sironi F,Trotta L,Antonini A,Zini M,Ciccone R,Della Mina E,Meucci N,Sacilotto G,Primignani P,Brambilla T,Coviello DA,Pezzoli G,Goldwurm Sdoi
10.1016/j.parkreldis.2009.09.008subject
Has Abstractpub_date
2010-03-01 00:00:00pages
228-31issue
3eissn
1353-8020issn
1873-5126pii
S1353-8020(09)00230-2journal_volume
16pub_type
杂志文章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:Orthostatic myoclonus (OM) is a recognized syndrome of gait unsteadiness accompanied by lower limb myoclonus provoked by the assumption of an upright posture. OM typically affects the elderly and is often associated with neurodegenerative disease. We sought to review the clinical and electrophysiologic cha...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.04.015
更新日期：2017-08-01 00:00:00
abstract：BACKGROUND:In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.10.005
更新日期：2017-12-01 00:00:00
abstract：OBJECTIVES:To determine cortical grey matter (GM) changes and their clinical and biochemical correlates in patients with Wilson's disease using voxel based morphometry (VBM). METHODS:Clinical and imaging data of 10 patients (all male, mean age 16.0 ± 6.3years) with Wilson's Disease were analyzed. T1W volumetric MRI da...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.06.017
更新日期：2016-09-01 00:00:00
abstract：:Some procedures, such as deep inspiration, increase sweat output (SSwR; sympathetic sweat response) and reduce cutaneous blood flow (SVR; skin vasomotor reflex) on the palm. We investigated SSwR, SVR, and cardiovascular function in 12 patients with progressive supranuclear palsy (PSP), 13 patients with Parkinson's dis...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(03)00109-3
更新日期：2003-12-01 00:00:00
abstract：:Restless legs syndrome (RLS) is a common condition characterized by an urge to move the legs, accompanied by uncomfortable or unpleasant sensations. Symptoms predominantly occur at rest in the evening or at night, and they are alleviated by moving the affected extremity or by walking. Recent European epidemiological s...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(09)70838-7
更新日期：2009-12-01 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：BACKGROUND:Non-motor symptom (NMS) differences between male Parkinson's disease (PD) and female PD, and between early-onset PD (EOPD) and late-onset PD (LOPD) in Chinese populations remain largely unknown. METHODS:A total of 522 PD patients from Southwest China were included. Patients were assessed using the Non-Motor...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.06.009
更新日期：2013-11-01 00:00:00
abstract：INTRODUCTION:To overcome travel distance and lack of local expertise, telemedicine programs have been implemented and are still pilot programs in many jurisdictions. Patient perspectives remain poorly understood. In the largest study to date, we examined user satisfaction and predictors of patient choice to use telemed...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.02.018
更新日期：2015-05-01 00:00:00
abstract：:Benign hereditary chorea (BHC, MIM 118700) is a rare autosomal dominant disorder manifesting with chorea in conjunction with hypothyroidism and respiratory problems, a triad also named "brain-lung-thyroid syndrome". BHC is characterized by childhood onset with minimal or no progression into adult life and normal cogni...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2011.01.002
更新日期：2011-06-01 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：INTRODUCTION:for a proportion of patients with functional motor symptoms (FMS), specific physiotherapy has recently emerged as a promising treatment. Aim of the present study was to assess in a sample of patients with FMS the efficacy of a physical therapy-based telemedicine programme on the motor symptoms themselves a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.05.004
更新日期：2020-07-01 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：:The objective of the current cross-sectional study was to use standardized psychiatric interviews (the Structured Clinical Interview for DSM-IV Axis I Disorders and the Neuropsychiatric Inventory; NPI) in order to better characterize psychiatric symptoms in 50 consecutive, treated and clinically stable patients with W...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2009.01.010
更新日期：2009-12-01 00:00:00
abstract：INTRODUCTION:The Montreal Cognitive Assessment (MoCA) is a frequently utilized cognitive screening tool that has attractive clinical attributes when utilized in individuals with Parkinson's disease. However, the construct validity of this instrument has not been well-characterized in Parkinson's samples. The purpose of...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.05.023
更新日期：2017-08-01 00:00:00
abstract：:The inhibition of uptake of radioactive dopamine into PC-12 cells by analogues of MPTP with systematic variations of structure was studied in order to assess the steric constraints of the transmembrane dopamine transporter. Of 15 analogues tested, 11 were found to inhibit dopamine uptake, all being competitive inhibit...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/1353-8020(95)00020-8
更新日期：1996-01-01 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：:Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a gen...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2006.04.009
更新日期：2007-05-01 00:00:00
abstract：:Levodopa is one of the most effective symptomatic treatment options for Parkinsonism with a favorable safety and tolerability profile. In some patients, particularly those suffering from orthostatic intolerance, the hypotensive effect of levodopa limits its therapeutic use. We used continuous noninvasive cardiovascula...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章
doi：10.1016/j.parkreldis.2014.04.007
更新日期：2014-08-01 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：:Genetic studies over the past 15 years have revolutionized our understanding towards the etiology of Parkinson's disease (PD). These studies have discovered many disease-linked genetic loci (PARK 1 to 18), which are now being interrogated for cellular pathways contributing to PD. Various pathogenic pathways were propo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(13)70037-3
更新日期：2014-01-01 00:00:00
abstract：:Although attentional impairments (particularly cognitive slowing) are frequent in Parkinson's disease (PD), the mechanisms underlying these phenomena have not been fully characterized. The MRI-compatible version of the Symbol Digit Modalities Test (SDMT) has been applied to healthy individuals but not previously to pa...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.05.006
更新日期：2020-07-01 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：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：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：:Anterograde tract-tracing and immunohistochemical methods were used to study projections from the pedunculopontine tegmental nucleus (PPN) to midbrain dopaminergic neurons in the squirrel monkey (Saimiri sciureus). The PPN harbored numerous cholinergic and glutamatergic neurons, as well as neurons that displayed both ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(99)00037-1
更新日期：1999-12-01 00:00:00
abstract：:The effectiveness of oral levodopa in complex Parkinson's disease (PD) is limited by its short half-life, and the resulting pulsatile dopaminergic stimulation leads to complex motor fluctuations and dyskinesia. Several treatments provide more continuous/less pulsatile dopaminergic stimulation by modifying the pharmaco...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2009.09.005
更新日期：2009-12-01 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：: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：INTRODUCTION:Olfactory dysfunction and neuropsychological symptoms like depression and anhedonia are common non-motor symptoms in Parkinson's disease (PD). The assessment of both functional domains includes clinical examination, olfactory testing, and standardized questionnaires. While olfaction is readily assessed by ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.09.035
更新日期：2016-01-01 00:00:00
