Abstract:
:Recent studies delineate substantial genetic components in Parkinson's disease (PD). However, very few studies were performed in Sub-Saharan African populations. Here, we explore the contribution of known PD-causing genes in patients of indigenous Zambian ancestry. We studied thirty-nine Zambian patients, thirty-eight with PD and one with parkinsonian-pyramidal syndrome (18% familial; average onset age 54.9 ± 12.2 years). In the whole group, all SNCA exons and LRRK2 exons 29 to 48 (encoding for important functional domains) were sequenced. In the familial patients and those with onset <55 years (n = 22) the whole LRRK2 coding region was sequenced (51 exons). In the patients with onset <50 years (n = 12), all parkin, PINK1, and DJ-1 exons were sequenced, and dosage analysis of parkin, PINK1, DJ-1, LRRK2, and SNCA was performed. Dosage analysis was also performed in the majority of the late-onset patients. The LRRK2 p.Gly2019Ser mutation was not detected. A novel LRRK2 missense variant (p.Ala1464Gly) of possible pathogenic role was found in one case. Two heterozygous, likely disease-causing deletions of parkin (exon 2 and exon 4) were detected in an early-onset case. Pathogenic mutations were not detected in SNCA, PINK1, or DJ-1. We also report variability at several single nucleotide polymorphisms in the above-mentioned genes. This is the first molecular genetic study in Zambian PD patients, and the first comprehensive analysis of the LRRK2 and SNCA genes in a Sub-Saharan population. Common disease-causing mutations were not detected, suggesting that further investigations in PD patients from these populations might unravel the role of additional, still unknown genes.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Yonova-Doing E,Atadzhanov M,Quadri M,Kelly P,Shawa N,Musonda ST,Simons EJ,Breedveld GJ,Oostra BA,Bonifati Vdoi
10.1016/j.parkreldis.2012.02.018subject
Has Abstractpub_date
2012-06-01 00:00:00pages
567-71issue
5eissn
1353-8020issn
1873-5126pii
S1353-8020(12)00076-4journal_volume
18pub_type
杂志文章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 potent...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(97)00001-1
更新日期:1997-04-01 00:00:00
abstract::Patients with idiopathic Parkinson's disease (PD) have impaired sympathetically mediated neurocirculatory innervation. Here we analyzed the correlation between cardiac (123)I-metaiodobenzylguanidine (MIBG) uptake, orthostatic hypotension and heart rate variability in treated patients with PD. Orthostatic hypotension (...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2008.04.031
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of solifenacin succinate in Parkinson's disease (PD) patients suffering from overactive bladder (OAB). BACKGROUND:Urinary dysfunction is a commonly encountered non-motor feature in PD that significantly impacts patient quality of life. DESIGN/METHODS:This was a double-blind, randomi...
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.2015.02.025
更新日期:2015-05-01 00:00:00
abstract:INTRODUCTION:There is considerable intra- and inter-individual variability in the pharmacokinetics (PK) of levodopa after oral administration. Inter-individual variability in levodopa PK has also been demonstrated in fasting single-dose studies. We examined the factors that affect levodopa PK in patients with Parkinson...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.020
更新日期:2020-07-01 00:00:00
abstract:INTRODUCTION:In addition to neurogenic orthostatic hypotension (nOH), patients with synucleinopathies frequently have hypertension when supine. The long-term consequences of both abnormalities are difficult to disentangle. We aimed to determine if supine hypertension is associated with target organ damage and worse sur...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.04.011
更新日期:2020-06-01 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
abstract::Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement disorder presents in the second or third decade. The aim of this study w...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.08.002
更新日期:2008-01-01 00:00:00
abstract::We describe the outcome of deep brain stimulation of the internal pallidum in a 57-year old patient with multiple system atrophy. Although the prominent dystonic features of this patient were markedly attenuated post-operatively, the outcome was to be considered unfavourable. There was a severe increase in akinesia re...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2005.08.004
更新日期:2006-04-01 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::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: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::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::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 neurodege...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(11)70023-2
更新日期:2012-01-01 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
abstract:INTRODUCTION:Alpha-synuclein (α-syn) aggregation is the pathological hallmark of Parkinson's Disease (PD). In this study, we measured α-syn total (α-syntotal), oligomeric α-syn (α-synolig) and α-synolig/α-syntotal ratio in the saliva of patients affected by PD and in age and sex-matched healthy subjects. We also compar...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.02.014
更新日期:2019-06-01 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::Non motor symptoms (NMS) represent a significant burden in Parkinson's disease (PD) with numerous studies highlighting the importance of NMS both in "pre-motor" phase of PD as well as throughout the course of disease. In part this has led the international Parkinson and Movement Disorder Society (IPMDS) task force to ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2015.09.027
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Essential tremor is the most common movement disorder in adults, but its exact etiology and pathophysiology are still not fully understood. There is some consensus, however, about the involvement of the cerebellum and accumulating evidence points towards a dysfunction of the gabaergic system. We hypothesize ...
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
abstract::We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation. Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiol...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(02)00034-2
更新日期:2003-01-01 00:00:00
abstract:INTRODUCTION:There is currently no definitive diagnostic test for Parkinson's disease (PD) and the current diagnostic procedure primarily relies on clinical manifestations. A hypointense appearance of nigrosome-1 (or absence of the "swallow tail" sign) on magnetic resonance imaging (MRI) has been proposed as a biomarke...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2020.07.002
更新日期:2020-09-01 00:00:00
abstract::We evaluated the diagnostic accuracy of SPECT imaging using [(99m)Tc]TRODAT-1 (TRODAT), a relatively inexpensive technetium-labeled dopamine transporter ligand, in distinguishing 29 patients with early PD from 38 healthy volunteers. Mean TRODAT uptake values were significantly decreased in the caudate (p=0.0097) and a...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2004.04.002
更新日期:2004-08-01 00:00:00
abstract::Levodopa serves as the gold standard of anti-parkinsonian therapy and nearly every patient with Parkinson's disease eventually receives this drug. To improve upon levodopa therapy, several forms of treatment have been devised to augment its actions, and new delivery systems are under development. This new research off...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(09)70009-4
更新日期:2009-01-01 00:00:00
abstract::Acute dystonic reactions are usually observed after exposure to drugs with antidopaminergic actions. We report on one patient with acute dystonia associated with ingestion of a cloperastine containing syrup, who suffered from schizophrenia but had been neuroleptic-free for 6months. Cloperastine has antihistaminic prop...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(99)00042-5
更新日期:2000-01-01 00:00:00
abstract:BACKGROUND:Apathy is a common neuropsychiatric syndrome in Parkinson's Disease (PD) that affects quality of life. Research into apathy has been hampered by a lack of broadly accepted diagnostic criteria. Recently, diagnostic criteria for apathy in neuropsychiatric disorders have been proposed, which to date have not be...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.08.015
更新日期:2010-12-01 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::Forty patients with Parkinson's disease (PD) were studied to explore the relationship between aspects of psychological functioning (depression, problems in motoric, cognitive and psychological areas) and physical illness (stage and duration of illness, functional disability, global cognitive status). Depression, motor...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(00)00010-9
更新日期:2000-07-01 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:OBJECTIVE:Melanopsin may be involved in the pathophysiology of photophobia in idiopathic isolated blepharospasm. We assessed the efficacy of blocking wavelengths of melanopsin absorption to reduce blinking in blepharospasm as a possible surrogate for photophobia. METHODS:Twenty-one participants (11 blepharospasm and 1...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.09.010
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:Mutations in the PARK2 (Parkin) gene result in an early-onset autosomal recessive form of Parkinson Disease (EO-PD). Although the frequency of the PARK2 mutations in EO-PD patients according to several studies is high and has been reported in up to 50% in familial and 19% in sporadic cases, these data remain ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.06.010
更新日期:2010-02-01 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