A novel alpha-synuclein gene (SNCA) missense variant in an Austrian familiy with atypical neuropathological features
Objective: To offer clinical, genetic and neuropathological information in a novel alpha-synuclein gene (SNCA) missense variant to further our understanding of synucleinopathies. Background: Around 5–10% of…Validating a virtual Timed Up and Go (vTUG) test in Parkinson’s Disease.
Objective: To validate the vTUG as a means of remotely monitoring patient gait and balance in the home. Background: The current regulatory gold standard for…Affected tongue movements in idiopathic REM sleep behavior disorder
Objective: In Parkinson’s disease (PD), recognition of speech deviations often follows clinical diagnosis. But what if speech is a prodromal biomarker in PD? The study…Systematic mapping of Parkinson’s disease gene interactions
Objective: Here, we aim to identify functional interactions between the Parkinson’s disease-associated genes. Background: Understanding how genes interact to produce a given phenotype is a…Molecular alterations and pathological remodeling of colonic wall in patients with Parkinson’s disease
Objective: To evaluate, in an integrated manner, changes in faecal microbiota composition, morpho-functional alterations of the colonic mucosal barrier and changes of inflammatory markers in…Sleep stability, arousals and cycle structure in alfa-synucleinopathies: a comparative study between isolated REM sleep behaviour disorder (iRBD), Parkinson’s Disease (PD) and Dementia with Lewy Bodies (DLB)
Objective: To compare sleep stability, arousals and sleep cycle structure between two sets of diagnosis: iRBD vs PD vs DLB; patients with RBD (RBD+) vs…Intermuscular coherence as a biomarker of subthalamic nucleus deep brain stimulation efficacy in Parkinson’s disease
Objective: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is an established treatment in advanced Parkinson’s disease (PD). However, the clinical outcome after STN-DBS is…Frequency of non-motor symptoms in GBA-PD may differ in carriers of mild vs. severe pathogenic variants
Objective: Parkinson's disease (PD) patients with pathogenic variants in the GBA (glucocerebrosidase) gene (GBA-PD) were reported to exhibit a younger age at onset, faster progression…LFP beta frequency OFF-ON shift in subthalamic nucleus in Parkinson’s disease
Objective: The aim of the current study is to investigate the frequency characteristics of beta activity in Parkinson’s disease. We hypothesized that beta peak central…Video-oculographic biomarkers for evaluating vertical ocular dysfunction in progressive supranuclear palsy
Objective: Objective: PSP patients typically show reduced amplitude and velocity of vertical saccades, but saccadic abnormalities have also been reported in PD. We investigated the…
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