Leveraging Large-Scale Proteomics to Identify Protein Quantitative Trait Loci and Causal Effects on Parkinson’s Disease
Objective: Integrate proteomics from the cerebrospinal fluid (CSF) and urine from the Parkinson’s Progression Markers Initiative cohort to prioritize the risk variants associated with Parkinson’s…Spastic Ataxia and Motorneuron disease as possible manifestations of ATP13A2 (PARK 9) variants
Objective: To describe 5 late-onset sporadic cases carrying either biallelic or monoallelic variants in ATP13A2, showing either spastic ataxia(Spatax) or primary lateral sclerosis (PLS) as…Understanding Patient and Care Partner Educational Preferences in Atypical Parkinsonism
Objective: To discern preferences for education and community connection among people affected by progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), or multiple system atrophy (MSA).…Peripheral immune profile and neutrophil-to-lymphocyte ratio in Progressive Supranuclear Palsy
Objective: This study aimed to evaluate the peripheral immune profile in patients with Progressive Supranuclear Palsy (PSP) compared with patients with Parkinson’s disease (PD) and…Clinical Utility of Synuclein Skin Biopsy in the Initial Diagnosis and Evaluation of Parkinsonian Disorders
Objective: To determine the clinical utility of phosphorylated alpha-synuclein (P-SYN) within skin biopsies in diagnostic and management decisions. Background: The initial diagnosis of Parkinson’s Disease…The impact of stimulation setting on Battery Longevity in Deep Brain Stimulation
Objective: This study aims to assess the estimated battery longevity and its determinants in Percept model of Deep Brain Stimulation (DBS) devices in patients diagnosed…Unique Presentation of SPG 15 as Juvenile Levodopa Responsive Parkinsonism: A Case Report
Objective: To present an atypical case of Hereditary Spastic Paraplegia (HSP) subtype SPG 15 manifesting as juvenile levodopa-responsive parkinsonism and the subsequent management decision for…Systematic Review of Incidence and Prevalence Studies of Multiple System Atrophy
Objective: This study sought to systematically review the methods and results of previous incidence and prevalence studies of MSA. Background: High-quality incidence and prevalence studies…Clinic vs Self-Referral for a Home-Based Fracture Prevention Trial of Zoledronate vs Placebo in Patients with Neurodegenerative Parkinsonism
Objective: To evaluate recruitment, eligibility and characteristics of clinic referred vs self-referred patients in the ongoing Trial of Parkinson’s and Zoledronate (TOPAZ, NCT03924414) Background: People…Differential Diagnosis of Parkinsonism with 18F-FP-CIT PET using a Self-supervised Deep Learning Model
Objective: To develop a self-supervised deep learning model using 18F-FP-CIT PET images from patients with Parkinsonism and to evaluate the model’s performance in the differential…
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