Abstract：
OBJECTIVE:To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay. METHODS:We retrospectively analyzed our patients with mutations in the parkin RBR E3 ubiquitin protein ligase gene (PRKN). We collected a total of 34 patients and focused on 18 cases (14 homozygous, 4 compound heterozygous). An arbitrary cut-off of 10 years from disease onset to diagnosis was considered to define patients with delayed diagnosis. RESULTS:Eight of 18 cases had a significant delay in their diagnosis (25.3 ± 17 years). By comparing patients with and without a delayed diagnosis and subsequently, comparing these groups to a group of young onset PD negative for mutations of PRKN, SNCA, DJ1, PINK1, LRRK2, GBA, and ATP13A2, we identified a specific phenotype associated with a diagnostic delay: young age, lack of tremor, and involvement of lower limbs (particularly dystonia affecting gait) at the time of disease onset. CONCLUSIONS:Our findings emphasize the diverse phenotypes associated with PRKN mutations and the related diagnostic challenges they present.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Ruiz-Lopez M,Freitas ME,Oliveira LM,Munhoz RP,Fox SH,Rohani M,Rogaeva E,Lang AE,Fasano Adoi
10.1016/j.parkreldis.2019.01.010subject
Has Abstractpub_date
2019-06-01 00:00:00pages
217-220eissn
1353-8020issn
1873-5126pii
S1353-8020(19)30010-0journal_volume
63pub_type
杂志文章abstract：OBJECTIVE:To investigate the association between Apolipoprotein E (APOE) genotype and freezing of gait (FOG) in Parkinson's disease (PD). METHODS:This cohort study included 339 early PD patients who were divided into APOE ε4-positive (n = 88) and ε4-negative (n = 251) groups. They were followed-up for up to 6 years to...
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：:Several factors involved in the etiology of Parkinson's disease (PD) have been proposed, including genetic and environmental factors or even a combination of both. Thus, multiple cellular hits are likely to contribute to neurodegeneration in PD. If such a mechanism happens to occur, our therapeutic intervention may pe...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(08)70026-9
更新日期：2007-01-01 00:00:00
abstract：:The stiff-man syndrome (SMS) is characterised by rigidity and spasm of predominantly axial and proximal limb muscles. The cause of the condition is unknown but the finding of antibodies to glutamic acid decarboxylase (GAD) in approximately 60% of patients has suggested an autoimmune basis. Pathological findings are li...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/s1353-8020(01)00029-3
更新日期：2001-10-01 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：:Today's society is changing rapidly and individuals increasingly favor an active role in designing their own lives. Contemporary patients are no exception, but the present health care system-which is organized primarily from the provider's perspective-is not yet prepared for this development. Here, we argue that an al...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2013.04.022
更新日期：2013-11-01 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：BACKGROUND:Balance training has been demonstrated to improve postural control in patients with Parkinson's disease (PD). The objective of this pilot randomized clinical trial was to investigate whether a balance training program using augmented visual feedback is feasible, safe, and more effective than conventional bal...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.parkreldis.2014.09.022
更新日期：2014-12-01 00:00:00
abstract：:The 'hung-up' knee jerk (HUKJ) is a specific, although rarely appreciated, clinical sign of Huntington's Disease. A HUKJ was present in 11 of 31 consecutive patients with Huntington's Disease seen in our practice. The clinical characteristics of these patients are described and an EMG recording of the HUKJ is presente...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00095-0
更新日期：2003-06-01 00:00:00
abstract：:The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.01.003
更新日期：2005-06-01 00:00:00
abstract：BACKGROUND:Although orthostatic hypotension (OH) is recognized as one of the main non-motor symptoms of Parkinson's disease (PD), there is inconsistent evidence about the prevalence of OH in PD. To estimate the prevalence of OH in PD more precisely we conducted a systematic review of the literature. METHODS:From PubMe...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.parkreldis.2011.04.016
更新日期：2011-12-01 00:00:00
abstract：:White matter lesions (WML) and epilepsy have been occasionally seen in Wilson's disease. No cases of generalized myoclonus have been reported so far. We present a patient with psychiatric symptoms starting at age 16, followed by tremor, generalized dystonia and severe generalized myoclonus. In addition to classical fi...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2006.03.012
更新日期：2007-04-01 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：BACKGROUND:Though visual illusions and hallucinations are common in dementia with Lewy bodies (DLB) and Parkinson's disease (PD), they are not typically observed clinically in prodromal stages, including isolated REM sleep behavior disorder (iRBD). False-noise errors on the pareidolia test (seeing faces when none are p...
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：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：INTRODUCTION:Mutations in the LRRK2 and alpha-synuclein (SNCA) genes are well-established causes of autosomal dominant Parkinson's disease (PD). However, their frequency differs widely between ethnic groups. Only three studies have screened all coding regions of LRRK2 and SNCA in European samples so far. In Turkey, the...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.12.007
更新日期：2018-03-01 00:00:00
abstract：:Moclobemide, a potent reversible monoamine-oxidase A (MAO-A) inhibitor, is an effective antidepressant that does not cause impairment of cognitive function in elderly patients and might be beneficial to motor deficits in Parkinson's disease (PD). In a 12-week open-label prospective study, we administered moclobemide (...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(97)00028-x
更新日期：1997-12-01 00:00:00
abstract：BACKGROUND:Although essential tremor (ET) is commonly encountered in clinical practice, historically, there has been considerable disagreement as how to best define it, and now with a growing sense of its clinical complexity, how to best encapsulate it. Here, I draw attention to five issues of current uncertainty. MET...
journal_title：Parkinsonism & related disorders
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.parkreldis.2017.07.004
更新日期：2018-01-01 00:00:00
abstract：:Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.08.008
更新日期：2008-01-01 00:00:00
abstract：BACKGROUND:Deep brain stimulation improves motor function and quality of life in patients with Parkinson's disease. The impact of these changes on patients' spouses is largely unknown. METHODS:Twenty-six spouses of patients undergoing surgery were evaluated before and 12 months after surgery, using the 36-Item Short F...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.11.008
更新日期：2012-06-01 00:00:00
abstract：INTRODUCTION:The diagnosis of progressive supranuclear palsy is often challenging early in the course of the disease, when clinical signs of the condition may be less apparent and patients do not clearly meet diagnostic criteria. In this study, we examine a potential radiographic marker in progressive supranuclear pals...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.05.006
更新日期：2016-07-01 00:00:00
abstract：BACKGROUND:Significant efforts have been focused on investigating the contribution of common variants to Parkinson disease (PD) risk. Several independent GWAS and metanalysis studies have shown a genome-wide significant association of single nucleotide polymorphisms (SNPs) in the α-synuclein (SNCA) and microtubule-asso...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.10.014
更新日期：2012-03-01 00:00:00
abstract：INTRODUCTION:Two phase3 studies (SP512; SP513) involving mostly Caucasian patients showed that rotigotine (≤8 mg/24 h) was efficacious and welltolerated in early-stage Parkinson's disease (PD). We report results from a phase 3 study (SP0914/NCT01646268) investigating rotigotine in Chinese patients with early-stage PD. ...
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.2016.04.022
更新日期：2016-07-01 00:00:00
abstract：:Dystonia is an incurable movement disorder which can cause not only physical but also mental problems, leading to impaired health-related quality of life (HRQoL). For patients with dystonia refractory to medical treatment, deep brain stimulation (DBS) is a well-established surgical treatment. The objective of this sys...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.11.016
更新日期：2020-01-01 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：BACKGROUND AND PURPOSE:Disturbance of the autonomic nervous system (ANS) is frequently encountered in Parkinson's disease (PD). In this study, we examined changes in systemic and cerebral hemodynamics during the cold pressor test (CPT) to determine whether cerebrovascular reactivity, controlled by the sympathetic nervo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2008.03.007
更新日期：2009-02-01 00:00:00
abstract：BACKGROUND:Some patients with progressive supranuclear palsy syndrome (PSPS) demonstrate a focal area of midbrain hypometabolism on FDG-PET scans which we call the 'pimple sign'. We assessed its association with midbrain atrophy, its reliability and its ability to differentiate PSPS from corticobasal syndrome (CBS) and...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.10.023
更新日期：2014-02-01 00:00:00
abstract：:We describe a 30-year-old woman who suffered from an unusual task-specific focal hand dystonia, which dominantly occurred with use of a spoon; there were no other activities affected, except for mild writer's dystonia on same side. This is the first report of a spoon-related focal dystonia. ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2006.12.008
更新日期：2008-01-01 00:00:00
abstract：BACKGROUND:We developed a novel secured web-based dystonia video repository for the Dystonia Coalition, part of the Rare Disease Clinical Research network funded by the Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke. A critical component of phenotypic data collection fo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.01.011
更新日期：2015-04-01 00:00:00
abstract：INTRODUCTION:Freezing of gait (FoG) is one of the most disabling gait disorders in Parkinson's disease (PD), reflecting motor and cognitive impairments, mainly related to dopamine deficiency. Recent studies investigating kinematic and kinetic factors affecting gait in these patients showed a postural instability charac...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.09.029
更新日期：2020-11-01 00:00:00
abstract：OBJECTIVE:To evaluate the subject-investigator agreement on the Unified Parkinson's Disease Rating Scale (UPDRS) subsections I and II. METHODS:Subject-investigator agreement was estimated at baseline and endpoint by Kappa statistics for individual items and concordance correlations for subscale totals using data from ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.10.006
更新日期：2012-03-01 00:00:00
