Exploring Cardiac Autonomic Dysfunction in Synucleinopathies with Parkinsonism Across Awake-Sleep Stages
Objective: To explore the differences in heart rate variability (HRV) across awake-sleep stages between patients with synucleinopathies and elderly controls without parkinsonism Background: A complex…Deep Brain Stimulation in a Patient with Dystonia-Parkinsonism Secondary to a c.609G>A PLA2G6-Associated Neurodegeneration Variant
Objective: To describe a rare likely pathogenic variant of the PLA2G6 protein and its response to deep brain stimulation (DBS). Background: PLA2G6-associated neurodegeneration (PLAN) can…Retention & Safety in a Home-Based Fracture Prevention Trial of Zoledronate vs Placebo (TOPAZ) in Persons with Neurodegenerative Parkinsonism (NDP)
Objective: To assess retention and safety in the ongoing TOPAZ trial, NCT03924414 Background: People with NDP face a four-fold increased fracture risk, yet preventive treatment…Utilization of Phosphorylated Alpha-Synuclein Skin Biopsy Testing in a Movement Disorders Center
Objective: To describe the utilization patterns of skin biopsy for phosphorylated alpha-synuclein (P-syn) aggregation obtained from three sites (posterior cervical, distal thigh, distal leg) and…Nasal septum deviation correlates with asymmetry in Parkinson’s disease
Objective: To assesse whether asymmetry in the nasal cavity is related to dopaminergic dysfunction asymmetry in PD patients Background: Asymmetry in motor dysfunction and associated dopaminergic…The regulatory variant c.–253C>T of the DNAJC13 gene as a causal factor for Parkinson’s disease in a patient with early-onset
Objective: This work aims to investigate the role of regulatory regions in Parkinson’s disease (PD) genes, which may help explain part of the missing heritability.…Role of presenilin 1 variants in parkinsonism
Objective: To characterize presenilin 1 gene (PSEN1) variants which can cause parkinsonism. Background: Variants in PSEN1 are associated with early onset Alzheimer’s disease mainly due…Parkinsonism after Post-Anoxic Brain Injury
Objective: To describe two cases of parkinsonism caused by anoxic brain injury. Background: Movement disorders occur in about 40% of patients following anoxic brain injury,…Atypical Frontotemporal Dementia with Parkinsonism Linked to SQSTM1 Mutation A Clinicopathological Case Study
Objective: To describe the clinical, neuroimaging, and neuropathological features of a patient with frontotemporal dementia (FTD) and parkinsonism related to mutation in the SQSTM1 gene.…Multiscale entropy: a New Oculomotor Measure of PSP.
Objective: The objective of this study was investigate whether multiscale entropy, a measure of complexity, when applied to the path of unconstrained eye movements could…
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