New presenilin-1 missense variant (p.Pro88Arg) characterized by initial progressive supranuclear palsy like phenotype.
Objective: To report a new presenilin-1 (PSEN 1) missense variant (p.Pro88Arg) characterized by initial Progressive Supranuclear Palsy (PSP) like phenotype. Background: Pathogenic variants in the PSEN1gene…Quantitative downgaze palsy predicts the survival duration in patients with progressive supranuclear palsy
Objective: To study whether quantitative downgaze palsy could predict the survival duration in patients with progressive supranuclear palsy (PSP). Background: No clinical feature has been…In vivo relationship between synaptic density and functional connectivity in progressive supranuclear palsy: a multimodal [11C]UCB-J PET and resting state fMRI study.
Objective: To assess the relationship between synaptic density and functional connectivity in the primary tauopathy of Progressive Supranuclear Palsy (PSP). Background: PSP is a debilitating…Plasma microRNA expression profiling in patients with progressive supranuclear palsy. A five-microRNA panel in plasma was identified as a potential biomarker for progressive supranuclear palsy
Objective: Our objective was to identify differentially expressed, circulating miRNAs in PSP which could serve as diagnostic biomarker for this disease. Background: Progressive supranuclear palsy…Clinical variants of PSP: phenotypical convergence and its relationship with the brain glucose metabolism
Objective: To evaluate the phenotypical convergence phenomena among a cohort of different PSP variants. We also aimed to evaluate the possible correlations of the regional…Rare Neurodegenerative Phenotypes in Patients Carrying Homozygous GBA1 Mutations
Objective: To describe patients with Type 1 Gaucher disease who developed a rare neurodegenerative disease other than synucleinopathies. Background: Lysosomal dysfunction as a contributor to…Visualising tau in patients with progressive supranuclear palsy using PI2620-PET
Objective: This study investigates the use of a new tau-specific PET radiotracer, [18F]-PI-2620, as a tool for visualising tau in the living brain. Background: The…Reduced cerebral energy metabolism in Parkinson’s disease in contrast to Progressive Supranuclear Palsy
Objective: To determine the significance of 31P-MRSI to differentiate between idiopathic Parkinson’s disease (PD), Progressive supranuclear palsy (PSP), and healthy control subjects. Background: Bioenergetic disturbances,…Fatigue in patients with progressive supranuclear palsy
Objective: To investigate prevalence and clinical impact of fatigue in the patients with progressive supranuclear palsy Background: Fatigue is a common and disabling non-motor symptom…Cerebrospinal fluid levels of oxidative stress measured using diacron-reactive oxygen metabolites and biological antioxidant potential in patients with Parkinson’s disease and progressive supranuclear palsy
Objective: We aimed to evaluate cerebrospinal fluid (CSF) levels of oxidative stress (OS) and antioxidant potential using diacron-reactive oxygen metabolites (d-ROMs) and biological antioxidant potential…
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