Ppmi

INTRODUCTION: Despite remarkable progress in identifying Parkinson's disease (PD) genetic risk loci, the genetic basis of PD remains largely unknown. With the help of the endophenotype approach and using data from dopamine transporter single-photon emission computerized tomography (DaTscan), we identified potentially involved genes in PD. METHOD: We conducted an imaging genetic study by performing exome-wide association study (EWAS) and genome-wide association study (GWAS) on the specific binding ratio (SBR) of six DaTscan anatomical areas between 489 and 559 subjects of Parkinson's progression markers initiative (PPMI) cohort and 83,623 and 36,845 single-nucleotide polymorphisms (SNPs)/insertion-deletion mutations (INDELs)...

OBJECTIVE: To investigate the association between a Parkinson's disease (PD)-specific polygenic score (PGS) and protective lifestyle factors on age at onset (AAO) in PD. METHODS: We included data from 4375 patients with idiopathic PD, 167 patients with GBA1 -PD, and 3091 healthy controls of European ancestry from AMP-PD, PPMI, and Fox Insight cohorts. The PGS was calculated based on a previously proposed composition of 1805 variants. The association between PGS and lifestyle factors (i...

Introduction: Previous epidemiological evidence has established the co-occurrence of malignant melanoma (MM) and Parkinson's disease (PD). Shared molecular mechanisms have been proposed to be implicated in this relationship. The aim of the present study was to assess the prevalence of MM in patients with sporadic and genetic types of PD, as well as in asymptomatic carriers of PD-related genes. Methods: Data regarding past medical history and concomitant disease of 1416 patients with PD (including 20 participants with prodromal disease who phenoconverted to PD), 275 healthy controls (HCs) and 670 asymptomatic carriers of PD-related genes were obtained from the database of the Parkinson's Progression Markers Initiative (PPMI)...

Patients with Parkinson's Disease (PD) experience REM sleep behavior disorder (RBD) more frequently than healthy controls. RBD is associated with torpid disease evolution. To test the hypothesis that differential genetic signatures might contribute to the torpid disease evolution in PD patients with RBD we compared the rate of genetic mutations in PD patients with or without probable RBD. Patients with a clinical diagnosis of PD in the Parkinson's Progression Markers Initiative (PPMI) database entered the study...

Long interspersed nuclear element-1 (LINE-1/L1) retrotransposons make up 17% of the human genome. They represent one class of transposable elements with the capacity to both mobilize autonomously and in trans via the mobilization of other elements, primarily Alu and SVA elements. Reference LINE-1 elements are, by definition, found in the reference genome, however, due to the polymorphic nature of these elements, variation for presence or absence is present within the population. We used a combination of clinical and transcriptomic data from the Parkinson's Progression Markers Initiative (PPMI) and applied matrix expression quantitative trait loci analysis and linear mixed-effects models involving 114 clinical, biochemical and imaging data from the PPMI cohort to elucidate the role of reference LINE-1 insertion polymorphism on both gene expression genome-wide and progression of Parkinson's disease (PD)...

INTRODUCTION: The neuroanatomical structures implicated in olfactory and emotional processing overlap significantly. Our understanding of the relationship between hyposmia and apathy, common manifestations of early Parkinson's disease (PD), is inadequate. MATERIALS AND METHODS: We analyzed data on 40 patients with early de-novo idiopathic PD enrolled within 2 years of motor symptom onset in the Parkinson's Progression Markers Initiative (PPMI) study. To be included in the analysis, patients must have smell dysfunction but no apathy at the baseline visit and had completed a diffusion MRI (dMRI) at the baseline visit and at the 48-month follow-up visit...

BACKGROUND: There is limited evidence on the effect of sex on permanent pacemaker implantation (PPMI) after transcatheter aortic valve replacement (TAVR). The primary objective of this meta-analysis was to determine the role of sex among patients requiring PPMI post-TAVR. METHODS: A literature search was conducted using the SCOPUS, MEDLINE, and CINAHL databases for studies published until October 2022. Eligible studies included published randomized controlled trials (RCTs) and Observational Cohort Studies (OCS) articles that reported PPMI as an outcome of pacemaker status following TAVR...

Parkinson's disease (PD) is one of the most frequent neurological diseases affecting millions of people worldwide. While the majority of PD cases are of unknown origin (idiopathic), about 5%-10% are familial and linked to mutations in different known genes. However, there are also people with a genetic predisposition to PD who do not develop the disease. To elucidate factors leading to the manifestation of PD we compared the occurrence of single nucleotide polymorphisms (SNPs) in various cytochrome P450 (P450) genes in people with a genetic predisposition and suffering from PD (GPD) to that of people, who are genetically predisposed, but show no symptoms of the disease (GUN)...

BACKGROUND AND OBJECTIVES: This study aimed to identify CSF proteomic signatures characteristic of Parkinson disease (PD) and evaluate their clinical utility. METHODS: This observational study used data from the Parkinson's Progression Markers Initiative (PPMI), which enrolled patients with PD, healthy controls (HCs), and non-PD participants carrying GBA1 , LRRK2 , and/or SNCA pathogenic variants (genetic prodromals) at international sites. Study participants were chosen from PPMI enrollees based on the availability of aptamer-based CSF proteomic data, quantifying 4,071 proteins, and classified as patients with PD without GBA1 , LRRK2 , and/or SNCA pathogenic variants (nongenetic PD), HCs, patients with PD carrying the aforementioned pathogenic variants (genetic PD), or genetic prodromals...

Patients with Parkinson's Disease (PD) often suffer from cognitive decline. Accurate prediction of cognitive decline is essential for early treatment of at-risk patients. The aim of this study was to develop and evaluate a multimodal machine learning model for the prediction of continuous cognitive decline in patients with early PD. We included 213 PD patients from the Parkinson's Progression Markers Initiative (PPMI) database. Machine learning was used to predict change in Montreal Cognitive Assessment (MoCA) score using the difference between baseline and 4-years follow-up data as outcome...

PURPOSE: In Parkinson's disease (PD), 5-10% of cases are of genetic origin with mutations identified in several genes such as leucine-rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA). We aim to predict these two gene mutations using hybrid machine learning systems (HMLS), via imaging and non-imaging data, with the long-term goal to predict conversion to active disease. METHODS: We studied 264 and 129 patients with known LRRK2 and GBA mutations status from PPMI database...

BACKGROUND: Substantial heterogeneity of motor symptoms in Parkinson's disease (PD) poses a challenge to disease prediction. OBJECTIVES: The aim of this study was to construct a nomogram model that can distinguish different longitudinal trajectories of motor symptom changes in early-stage PD patients. METHODS: Data on 90 patients with 5-years of follow-up were collected from the Parkinson's Progression Marker Initiative (PPMI) cohort. We used a latent class mixed modeling (LCMM) to identify distinct progression patterns of motor symptoms, and backward stepwise logistic regression with baseline information was conducted to identify the potential predictors for motor trajectory and to develop a nomogram...

BACKGROUND: Parkinson's disease (PD) is one of the most common neurodegenerative disease, and half of PD patients have hypertension as well. The effect of antihypertensive drugs on the progression of PD has been less studied. The focus of this study was on the changes in dopamine transporter (DAT) levels to assess the effect of antihypertensive drugs on the progression of PD. METHODS: Data from 321 drug-naïve patients from the Parkinson's Disease Progression Marker Initiative (PPMI) were collected over a 2-year period...

We aimed to explore excessive daytime sleepiness (EDS) and correlates of clinical characteristics by using cross-sectional and longitudinal analyses from the Parkinson's Progression Markers Initiative database. Four hundred twenty-three patients with Parkinson's disease (PD; EDS: non-EDS = 357:66) and 195 healthy controls (HCs; EDS: nEDS = 171:24) were enrolled in our study at baseline. Multiple linear and linear mixed-effects models were used to research the relationships between EDS/daytime sleepiness severity and clinical characteristics...

PURPOSE: Cerebellum modulates the amplitude of resting tremor in Parkinson's disease (PD) via cerebello-thalamo-cortical (CTC) circuit. Tremor-related white matter alterations have been identified in PD patients by pathological studies, but in vivo evidence is limited; the influence of such cerebellar white matter alterations on tremor-related brain network, including CTC circuit, is also unclear. In this study, we investigated the cerebral and cerebellar white matter alterations in PD patients with resting tremor using diffusion tensor imaging (DTI)...

INTRODUCTION: Urinary incontinence (UI) is a common and disruptive symptom of Parkinson's disease (PD). This study aimed to identify neural correlates associated with UI among PD patients with UI (UI-PD) compared to those PD patients without UI (nonUI-PD) with the expectation of demonstrating increased functional connectivity (FC) between areas in the striatum and limbic system and decreased FC in executive areas. METHODS: rsfMRI and T1w data (n = 119) were retrieved from the Parkinson's Progression Markers Initiative (PPMI)...

BACKGROUND: This study aims to develop a post-procedural risk prediction model for permanent pacemaker implantation (PPMI) in patients treated with transcatheter aortic valve replacement (TAVR). METHODS: 336 patients undergoing TAVR at a single institution were included for model derivation. For primary analysis, multivariate logistic regression model was used to evaluate predictors and a risk score system was devised based on the prediction model. For secondary analysis, a Cox proportion hazard model was performed to assess characteristics associated with the time from TAVR to PPMI...

PURPOSE: A cross-sectional study was designed to investigate the possible association between Epworth sleepiness scale (ESS) scores and striatal dopamine uptake in the early stages of Parkinson's disease (PD). METHODS: Two groups of PD patients (n = 464) and healthy controls (HC) (n = 162) were enrolled in the current study from the Parkinson's progression markers initiative cohort ( https://www.ppmi-info.org ). All the subjects were evaluated for excessive daytime sleepiness (EDS) using the ESS...

BACKGROUND: Freezing of gait (FOG) is common in the late stage of Parkinson's disease (PD), which can lead to disability and impacts the quality of life. Therefore, early recognition is crucial for therapeutic intervention. We aimed to explore the abnormal regional homogeneity (ReHo) and functional connectivity (FC) in FOG converters and evaluate their diagnostic values. METHODS: The data downloaded from the Parkinson's Disease Progression Markers Project (PPMI) cohort was subdivided into PD-FOG converters ( n = 16) and non-converters ( n = 17) based on whether FOG appeared during the 3-year follow-up; 16 healthy controls were well-matched...

BACKGROUND: Identifying a meaningful progression metric for Parkinson's disease (PD) that reflects heterogeneity remains a challenge. OBJECTIVE: To assess the frequency and baseline predictors of progression to clinically relevant motor and non-motor PD milestones. METHODS: Using data from the Parkinson's Progression Markers Initiative (PPMI) de novo PD cohort, we monitored 25 milestones across six domains ("walking and balance"; "motor complications"; "cognition"; "autonomic dysfunction"; "functional dependence"; "activities of daily living")...