Abstract:
BACKGROUND:A novel homozygous missense mutation (c.773G > A, p.Arg258Gln) in Synaptojanin 1 (SYNJ1, 21q22.2) has recently been reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism (ARJP). Contribution of this synaptic gene related to Parkinsonism phenotypes in other populations still remains unidentified. METHODS:An ARJP family with two affected siblings characterized by frequent tremor with bradykinesia and rigidity was recruited in this study. Both siblings showed intense dyskinesia and dystonia on administration of Syndopa. The family was analyzed for both mutations and exon dosage variations in PARKIN, PINK1 and DJ1. Further, whole exome sequencing was performed in two affected and one unaffected sibling in the family. RESULTS:We identified a novel homozygous mutation (c.1376C > G, p.Arg459Pro) in SYNJ1 segregating in this family. This p.Arg459Pro mutation was not observed in 285 additional Parkinson disease (PD) samples (32 familial, 81 early onset and 172 late onset) screened by PCR-Sanger-sequencing. It was also absent in dbSNP, 1000 Genomes, ExAC, NHLBI-ESP database and in >250 ethnically matched exomes available in our laboratory. The arginine residue is highly conserved across species and predicted to be damaging by several in silico tools. As with the previous mutation p.Arg258Gln, p.Arg459Pro is also present in Sac 1 domain of SYNJ1 wherein p.Arg258Gln mutation has already been described to impair the phosphatase activity. CONCLUSIONS:We report another novel mutation in SYNJ1 of an Indian consanguineous ARJP family. Finding an additional mutation in this gene further supports the involvement of SYNJ1 in PD pathogenesis across different ethnicities.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Kirola L,Behari M,Shishir C,Thelma BKdoi
10.1016/j.parkreldis.2016.07.014subject
Has Abstractpub_date
2016-10-01 00:00:00pages
124-128eissn
1353-8020issn
1873-5126pii
S1353-8020(16)30278-4journal_volume
31pub_type
杂志文章abstract:INTRODUCTION:Parkinson's disease (PD) is characterized by bradykinesia, rigidity, postural instability and tremor. Several pathologic processes can produce this syndrome, but neurodegeneration accompanied by neuronal inclusions composed of α-synuclein (Lewy bodies) is considered the typical pathologic correlate of PD. ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2017.07.033
更新日期:2018-01-01 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::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
abstract:BACKGROUND:Punctual delivery of dopaminergic medication to Parkinson's disease (PD) patients may be important in optimizing disease control. We tested the hypothesis that prompt delivery of l-dopa medications to emergency hospital inpatients was associated with a decreased length of stay in hospital. METHODS:The study...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.11.004
更新日期:2017-02-01 00:00:00
abstract:INTRODUCTION:Continuous infusion of levodopa/carbidopa intestinal gel (LCIG) is an effective treatment for patients with advanced Parkinson Disease (PD) that cannot be further improved by oral therapy. METHODS:We conducted an observational, prospective, and multicenter study to collect, in a large sample of PD treated...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2015.05.014
更新日期:2015-08-01 00:00:00
abstract::We studied daytime sleepiness in 160 patients with Parkinson's disease and 40 normal subjects. We compared the prevalence of daytime sleepiness in patients who were taking levodopa alone, levodopa with bromocriptine, levodopa with ropinirole, and levodopa with pramipexole. We found that (1) all these anti-Parkinson dr...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(00)00076-6
更新日期:2001-10-01 00:00:00
abstract:INTRODUCTION:The reduction of background activity and the increase of low-frequency powers on electroencephalogram (EEG) correlate with cognitive impairment and have been suggested to be underpinned by cholinergic deficit. We aimed to investigate the ratio between α and θ band power (α/θ ratio), as a synoptic index of ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.007
更新日期:2020-06-01 00:00:00
abstract::Parkinson's disease (PD) is a common neurodegenerative disorder that produces progressive disability despite symptomatic treatment. Several strategies, including stereotaxic brain lesions, deep brain stimulation, transplants of dopamine cells and administration of neurotrophic factors, have been proposed to improve ef...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(02)00005-6
更新日期:2002-06-01 00:00:00
abstract:INTRODUCTION:There is an unmet need to better control motor complications in Parkinson's disease (PD). Naftazone, which exhibits glutamate release inhibition properties, has shown antiparkinsonian and antidyskinetic activity in preclinical models of PD and in a clinical proof of concept study. METHODS:We conducted a d...
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.2018.10.005
更新日期:2019-03-01 00:00:00
abstract::Spinocerebellar ataxia (SCA) 17 is a dominant, progressive, neurodegenerative disorder. The disease is caused by a triplet repeat expansion mutation within TATA-binding protein (TBP). Ataxia, dementia, parkinsonism and dystonia are common features. We have previously shown in several pedigrees that SCA-2 and SCA-3 can...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(03)00027-0
更新日期:2003-08-01 00:00:00
abstract::This preliminary study aimed to analyse the roll-off of the foot during gait before and after implantation of a unilateral pallidal electrode in severely affected patients with Parkinson's disease (PD). Five subjects were tested in a gait laboratory during the "on" phase of the medication cycle. Spatiotemporal variabl...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(98)00038-8
更新日期:1998-12-01 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: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:BACKGROUND:The Montreal Cognitive Assessment (MoCA) is increasingly being used as a cognitive screening test in Parkinson disease (PD). The MoCA's popularity likely reflects its ability to detect executive dysfunction, a relative deficiency of the Mini-Mental State Examination (MMSE). OBJECTIVE:To compare neurochemica...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.07.008
更新日期:2014-10-01 00:00:00
abstract::To assess possible differences in dopamine metabolism that could parallel disease progression in Parkinson's disease (PD), we measured dopamine (DA) and its metabolites in the cerebrospinal fluid (CSF) in PD patients at different stages of disease: de novo (DEN), advanced not showing dyskinesias (ADV), and advanced wi...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2008.10.001
更新日期:2009-06-01 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::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::In Parkinson's disease (PD), post-mortem examination reveals a loss of dopaminergic (DA) neurons in the substantia nigra (SN) associated with a massive astrogliosis and the presence of activated microglial cells. Similarly, microglial activation has also been reported to be associated with the loss of DA neurons in an...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2004.10.013
更新日期:2005-06-01 00:00:00
abstract:INTRODUCTION:In Parkinson's disease (PD), neuropsychiatric symptoms (NPS) can be particularly burdensome for caregivers. The main goal of this study was to assess the impact of NPS, assessed by means of a new specific scale, on caregiver burden. METHODS:A sample of 584 pairs of PD patients and their primary caregivers...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.03.024
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:Brain iron disequilibrium and dopaminergic dysfunction are key pathophysiological features of Restless Legs Syndrome (RLS). Rep1 polymorphism in the promotor region of SNCA is associated with risk of Parkinson's disease, however its association with RLS and iron status is unclear. OBJECTIVE:To investigate S...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.09.015
更新日期:2020-12-01 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 Behavioural Assessment of the Dysexecutive Syndrome (BADS) is a neuropsychological battery developed with the intent of measuring a wide range of executive impairments. Although the psychometric characteristics of BADS have previously been investigated in distinct neurological disorders, data on its validity in Pa...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.07.011
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Non-motor symptoms in Parkinson's disease (PD), such as cognitive, emotional, autonomic and somatosensory alterations, are not ubiquitous but vary between the tremor dominant (TD) and postural instability/gait difficulty (PIGD) subtypes of the syndrome. Non-motor phenomena (e.g., anxiety, depression and apat...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.05.001
更新日期:2018-08-01 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:INTRODUCTION:Glucocerebrosidase (GBA) gene variants are associated with the development of the Lewy body disorders (LBD) Parkinson disease (PD) and dementia with Lewy bodies (DLB). Idiopathic REM sleep behavior disorder (IRBD) represents prodromal LBD in most instances. We investigated whether GBA variants are overrepr...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.02.034
更新日期:2018-05-01 00:00:00
abstract:PURPOSE:Fall-related fracture is one of the most disabling features of idiopathic Parkinson's disease (PD). A better understanding of the associated factors is needed to predict PD patients who will require treatment. METHODS:This prospective study enrolled 100 adult idiopathic PD patients. Stepwise logistic regressio...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.09.024
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Effects on non-motor symptoms, mainly cognitive and psychiatric side effects, could influence the decision for either globus pallidus pars interna (GPi) or subthalamic nucleus (STN) deep brain stimulation (DBS) for patients with Parkinson's disease (PD). OBJECTIVE:1) To compare cognitive and psychiatric out...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2016.09.018
更新日期:2016-12-01 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:BACKGROUND:Given the heterogeneity of mild cognitive deficits in non-demented Parkinson's disease (PD), sensitive and anatomically specific behavioural measures are crucial when evaluating cognition in this patient group. Inhibitory dysfunction is one such deficit increasingly being recognised in non-demented PD; howev...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.04.020
更新日期:2013-09-01 00:00:00
abstract:INTRODUCTION:Increasing evidence shows a strong association between idiopathic REM sleep behavior disorder (iRBD) and α-synucleinopathies. Recent studies have indicated an inflammatory mechanism in the pathogenesis of α-synucleinopathies. Whether peripheral inflammatory cytokines are altered in iRBD and can be biomarke...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.07.017
更新日期:2020-09-01 00:00:00