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 parkinsonism and cognitive decline. Our patient had a different haplotype from that of a patient with a p.A53T variant from an Italian family. The proband presented at 42 years of age with progressive parkinsonism and good response to levodopa in the early stages of the disease. At 46 years of age, he developed delusions and cognitive decline. Brain magnetic resonance imaging showed bilateral atrophic changes in the hippocampus and temporal lobes. He died of pneumonia at the age of 52 years. Neuropathological examination revealed severe neuronal loss in the substantia nigra, locus coeruleus, and dorsal nucleus of the vagus nerve, as well as widespread Lewy pathology including Lewy bodies and neurites, corresponding to Braak stage 6, and diffuse neocortical-type PD. There was mild appearance of tau pathology and glial cytoplasmic inclusion, in the absence of TDP-43 pathology. Alpha-synuclein p.A53T characteristically cause the Lewy body pathology and the symptoms, that resembled those of the reported patients with p.A53T.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Nishioka K,Hashizume Y,Takanashi M,Daida K,Li Y,Yoshino H,Tambasco N,Prontera P,Hattori Y,Ueda A,Watanabe H,Hattori Ndoi
10.1016/j.parkreldis.2020.11.001subject
Has Abstractpub_date
2020-12-01 00:00:00pages
183-187eissn
1353-8020issn
1873-5126pii
S1353-8020(20)30851-8journal_volume
81pub_type
杂志文章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
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更新日期:2020-12-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.12.006
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND:Visual hallucinations (VH) in Parkinson's disease (PD) are associated with PD dementia and have been related to cognitive impairments in non-demented PD patients. Reports on the specific cognitive domains affected are conflicting. The aim of the present study was to investigate the presence of specific cogni...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.04.026
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.07.002
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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::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
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.06.003
更新日期:2017-09-01 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
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.02.014
更新日期:2013-06-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2003.11.001
更新日期:2004-03-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.04.024
更新日期:2012-08-01 00:00:00
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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
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journal_title:Parkinsonism & related disorders
pub_type: 信件
doi:10.1016/j.parkreldis.2019.03.004
更新日期:2019-06-01 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::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...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.09.008
更新日期:2010-03-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.017
更新日期:2020-06-01 00:00:00
abstract:INTRODUCTION:We aimed to evaluate whether neuromelanin-sensitive MRI (NM-MRI) features in the substantia nigra pars compacta (SNc) were of diagnostic value to differentiate untreated essential tremor (ET) from de novo tremor-dominant Parkinson's disease (PDT). METHODS:Eighteen untreated ET patients, 21 de novo PDT pat...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.07.007
更新日期:2019-01-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2013.06.006
更新日期:2013-11-01 00:00:00
abstract::Adenosine derived from the degradation of ATP/AMP functions as a signalling molecule in the nervous system through the occupation of A1, A2, and A3 adenosine receptors. Adenosine A(2A) receptors have a selective localization to the basal ganglia and specifically to the indirect output pathway, and as a consequence off...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2008.12.006
更新日期:2009-07-01 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
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.02.013
更新日期:2020-03-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.10.033
更新日期:2020-12-01 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
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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:OBJECTIVES:Compare the efficacy of two walking assistance devices (wheeled walker and standard walker) to unassisted walking for patients with PD and gait freezing. BACKGROUND:Although numerous walking devices are used clinically, their relative effects on freezing and walking speed have never been systematically test...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s1353-8020(03)00060-9
更新日期:2003-10-01 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: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
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journal_title:Parkinsonism & related disorders
pub_type: 传,历史文章,杂志文章,评审
doi:10.1016/j.parkreldis.2013.11.002
更新日期:2014-02-01 00:00:00
abstract::Patients with Parkinson's disease (PD) experience progressive disability and reduced quality of life due to both motor and non-motor complications. The cost of illness escalates as PD progresses, placing an economic burden on the healthcare system, society and patients themselves. Overall cost estimates vary from coun...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2007.06.003
更新日期:2007-09-01 00:00:00
abstract::Parkinson's disease is a chronic neurological disorder that results in gait and posture impairment. There is increasing evidence that these motor impairments may be partially due to deficits within the sensory system. In this study, the effects of a facilitatory insole that provides increased plantar sensory stimulati...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.04.004
更新日期:2009-11-01 00:00:00