Mechanisms of PLA2G6 Deficiency Impacting Mitochondria-associated membranes in Parkinson’s Disease
Objective: This study aims to explore the functions of PLA2G6 protein at the endoplasmic reticulum-mitochondria interface, unveiling the potential mechanisms of PLA2G6-related Parkinson’s disease (PD)…Association between Sleep Behaviors and Age at Onset of Parkinson’s Disease
Objective: To investigate the associations between multiple sleep behaviors and the age at onset (AAO) of Parkinson’s disease (PD) using the UK Biobank. Background: Sleep…POLG-Related Disease Mimicking Progressive Supranuclear Palsy with Selective Vertical Gaze Restriction
Objective: To describe a patient with a pathogenic POLG mutation presenting with sensory neuropathy, ataxia, recurrent falls, and supranuclear gaze palsy initially misdiagnosed as progressive…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…Latent Clinical States and Longitudinal Transitions in Prodromal Lewy Body Disease: A Data-Driven Analysis from the NaT-PROBE Study
Objective: To elucidate the structure of clinical heterogeneity and longitudinal transition patterns in a prodromal Lewy body disease (LBD) screening cohort using a data-driven approach.…Multidisciplinary Care Preserves Function and Quality of Life After Nursing Home Placement in Late-Stage Parkinson’s Disease: A Prospective Cohort Study
Objective: To assess whether multidisciplinary care following the time of nursing home placement for patients with Parkinson's disease (PD) can maintain their activities of daily…Safety and Effect of Ecopipam During the First 8 Weeks of Treatment for Tourette Syndrome: A Post Hoc Analysis
Objective: To assess the safety profile and effect of ecopipam, a selective dopamine D1 receptor antagonist, during the first 8 weeks of therapy for Tourette…Patient-centered Parkinson’s services and integrated primary care in southern Ghana: patient and caregiver perceptions from a cross-sectional survey
Objective: To evaluate patients’ and caregivers’ perceptions of patient-centered care for persons with Parkinson’s disease (PwPD) across three healthcare facilities in southern Ghana, and to…Neurophysiologic Testing Aids Diagnosis of Stiff-person Spectrum Disorders
Objective: To develop standardized, quantifiable criteria when using neurophysiologic techniques to diagnose SPSD. Furthermore, we desired two levels of diagnostic certainty: Neurophysiology Possible for high…Clinical and Psychophysiological Characteristics of Chronic Pain in Parkinson’s Disease: Pain Phenotypes, Central Sensitization, and Quality of Life
Objective: To assess clinical characteristics and pain phenotypes in PD patients with different types of chronic pain, to assess the severity of central sensitization and…
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