A pilot study of whole exome sequencing in progressive supranuclear palsy
Objective: To identify genetic variants associated with Progressive Supranuclear Palsy (PSP) using whole exome sequencing. Background: PSP is a rare tauopathy but is the second…Progressive supranuclear palsy as a manifestation of the second stage of CADASIL syndrome
Objective: To describe progressive supranuclear palsy (PSP) as a clinical manifestation of second stage CADASIL syndrome. Background: Recent data suggests that CADASIL syndrome in rare…PSP and HIV: Causality or coincidence?
Objective: Our aim was to describe the clinical picture of an HIV patient with a progressive neurodegenerative disorder likely Progressive supranuclear palsy (PSP). Background: Movement…Hereditary atypical parkinsonism with novel mutation of the VPS35 and FBXO7 genes
Objective: To determine the genetic background of hereditary atypical parkinsonism in an isolated region of the Czech Republic. Background: A higher prevalence of parkinsonism was…Incidence of dynamic aphasia in progressive supranuclear palsy
Objective: To evaluate of Incidence of dynamic aphasia in Progressive supranuclear palsy. Background: Progressive supranuclear palsy (PSP) is an akinetic-rigid syndrome of unknown aetiology which…Cognitive impairment in patients with progressive supranuclear palsy and multiple system atrophy
Objective: Assessment, description and mutual comparison of cognitive impairment in patients with progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). Background: In most recent…Alterations in 14-3-3 protein phosphorylation as a biomarker for neurodegeneration
Objective: To examine whether 14-3-3 phosphorylation is altered in Parkinson's disease and other neurodegenerative disorders. Background: 14-3-3 proteins are a highly conserved family of proteins…The basal ganglia muscarine receptors impairment in progressive supranuclear palsy
Objective: To measure muscarinic M2 and M4 receptors in the basal ganglia in PSP. Background: Progressive supranuclear palsy is a nuerodegenerative Parkinson's plus syndrome. This…Atypical Parkinsonian disorders: Insights for a differential diagnosis through the analysis of oculomotor profile in MSA, PSP and CBD patients
Objective: To determine peculiar changes in oculomotor profile that may help in distinguishing atypical parkinsonism with overlapping clinical features. Background: Atypical Parkinsonian disorders (APDs) include…Sleep disorders in progressive supranuclear palsy
Objective: Assessment of incidence of insomnia in PSP, its connection with motor, neuropsychological and behavior disorders, evaluation of impact on the quality of life. Background:…
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