Genetically proven Juvenile-Onset Niemann–Pick Disease Type C Presenting with Dystonia- Ataxia syndrome.
Objective: We present a case Juvenile-Onset Niemann–Pick Disease Type C (NPC) who Presented to us with progressive Dystonia- Ataxia syndrome. Background: Niemann–Pick disease type C…Temporal Ordering of Biomarker Abnormality Events Leading to Cognitive Impairment in Parkinson’s Disease: A Disease Event-Based Model Analysis of the PPMI Cohort
Objective: To estimate the temporal ordering of multimodal biomarker abnormality events leading to cognitive impairment in PD using a Disease Event-Based Model (DEBM), incorporating clinical,…Does Subthalamic Nucleus DBS Produce Sustained Improvement in Postural Abnormalities? A 5 Year Prospective Study
Objective: To evaluate the long-term effects of subthalamic nucleus (STN) deep brain stimulation (DBS) on postural abnormalities in patients with advanced Parkinson’s disease (PD). Background:…Plasma Extracellular Vesicle Protein Biomarker Discovery for Monogenic and Sporadic Dystonia
Objective: To discover plasma biomarkers that differentiate people with dystonia from healthy controls (HC). Background: Blood-based biomarkers for dystonia could address several unmet clinical needs:…Comparison of Regional Perfusion Patterns in Clinical Subtypes of PSP and CBD: Dual Phase [¹⁸F]FP CIT PET Study
Objective: To investigate the regional perfusion patterns using PET imaging across various clinical subtypes of PSP and CBD. Background: On MRI, PSP typically shows midbrain…Amyloid status as a moderator of the association between physical activity and progression of Parkinson’s disease
Objective: We investigated a modulation effect of amyloid copathology on the influence of regular physical activity on the progression of Parkinson disease (PD). Background: Physical…Risk of Ischemic Cerebrovascular Events in Patients with Deep Brain Stimulation for Parkinson’s Disease: A Cohort Study
Objective: To longitudinally assess the risk of ischemic cerebrovascular events in patients undergoing DBS Background: Longitudinal data on the potential impact of DBS on long-term…Phenotypic Evolution from Nonfluent PPA to PSP
Objective: Progressive Supranuclear Palsy (PSP) and Nonfluent Primary Progressive Aphasia (nfvPPA) are clinicopathological entities within the 4-repeat tauopathy (4R tauopathy) spectrum. Increasing evidence suggests that…MDS Guidance Framework for Electronic Clinical Outcome Assessments: Updating Practices for Validation and Implementation
Objective: To present the draft International Parkinson and Movement Disorder Society (MDS) guidance framework for validating, evaluating, and implementing electronic clinical outcome assessments (eCOAs). Background:…Risk stratification study of fluid biomarkers for alpha-synucleinopathy with dementia
Objective: This study focuses on mixed pathology of α-synucleinopathy and Alzheimer’s disease(AD), analyzing the relationships among biomarkers, genetic factors, and cognitive function in order to…
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