Utility of the long-read single-molecule nanopore sequencing for detection of repeat number and epigenetic modifications relevant for X-linked dystonia-parkinsonism
Objective: To investigate the utility of long-read single-molecule nanopore sequencing for simultaneous detection of repeat number and methylation of the SINE-VNTR-Alu (SVA) retrotransposon in the…Increased free-water in the substantia nigra in idiopathic REM sleep behaviour disorder
Objective: In this study, we tested the hypothesis that free water is elevated in the posterior substantia nigra of idiopathic rapid eye movement sleep behaviour…Genetic hypokinetic rigid syndrome: Clinical phenotypes from infancy to adolescence in a series of Chilean Patients
Objective: The aim of this study is to characterize child population with genetic early-onset parkinsonism. Background: Early forms of Parkinsonism have many distinctive features as…Quantitative gait analysis using a pose-estimation algorithm with a single 2D-video of PD patients
Objective: To develop an easily accessible and objective tool to evaluate gait in PD patients, we analyzed gait from a single 2-dimensional (2D) video. Background:…Carboplatin, Paclitaxel, and Nivolumab-induced Parkinsonism Responsive to Levodopa
Objective: To present the first reported case of reversible, levodopa sensitive, chemotherapy- induced parkinsonism due to the combination of carboplatin, paclitaxel, and nivolumab. Background: Many case reports describe antineoplastic agents causing reversible parkinsonism, most commonly, cyclophosphamide, cytosine arabinoside, and cyclosporine. To our knowledge, drug-induced parkinsonism related to combination therapy of paclitaxel, carboplatin, and nivolumab has never been…Patient and Care Partner Perspectives on a Community-Based Outpatient Palliative Care Intervention for Parkinson’s Disease and Related Disorders
Objective: To understand patient and care partner perspectives on a community-based outpatient palliative care intervention for patients with Parkinson’s disease and related disorders (PDRD). Background:…Impulse Control Disorders Following Bilateral Subthalamic Deep Brain Stimulation for Parkinson’s Disease: The INTREPID Randomized Controlled Trial
Objective: To assess frequency and outcomes of impulsivity in study participants receiving bilateral subthalamic deep brain stimulation (STN-DBS) for treatment of Parkinson’s Disease (PD) who…Data-driven Subtype Classification of Patients with Early-stage Multiple System Atrophy
Objective: The objective of the present prospective study was to conduct latent class analysis (LCA) of a range of motor and nonmotor symptoms of MSA…Onset of complications in patients with Parkinson disease in Brazilian Amazon: cohort study.
Objective: To assess the onset of complications in patients with Parkinson’s disease (PD) in early stage, in a Brazilian Amazon city. Background: PD is a…Parkinsonism in individuals with genetic neurodevelopmental disorders: A systematic review
Objective: It is increasingly recognized that individuals with genetic neurodevelopmental disorders (GNDs) such as 22q11.2 deletion syndrome can suffer from parkinsonism. We aim to provide…
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