Young-Onset Parkinson’s Disease with Coexisting GBA1 Mutation and ATXN3 Repeat Expansion: A Double Hit?
Objective: To report a rare case of young-onset Parkinson’s disease (PD) with a positive family history in which the patient was found to harbor double…DCN-PPN Pathway Activation Improves Motor Dysfunction via Synaptic Plasticity in Parkinson’s Disease
Objective: To define the anatomical and functional connectivity of the DCN-PPN pathway, determine its alterations in PD, and investigate whether impaired synaptic plasticity in this…Deep Brain Stimulation Outcomes in Parkinson’s Disease Patients With GBA1 Variants: A Systematic Review and Meta-analysis
Objective: To compare motor, cognitive, and medication outcomes following deep brain stimulation (DBS) in Parkinson’s disease patients with GBA1 variants versus non-carriers Background: Variants in…Early-Onset Parkinson Disease in 22q11.2 Deletion Syndrome:Diagnostic Challenges in a Patient With Schizophrenia.A Case Report
Objective: To highlight 22q11.2 deletion syndrome (22q11.2DS) as an underrecognized genetic cause of early-onset Parkinson disease (EOPD) and to describe the diagnostic challenges in patients…Plasma Proteomics in PSP
Objective: We implemented an unbiased proximity extension proteomics assay to identify novel plasma PSP biomarkers. Background: Blood-based biomarkers can help to support non-invasive early diagnosis…Various Levodopa Formulation effects on Local Field Potentials in Parkinson’s Disease
Objective: To describe the electrophysiological changes that occur in the brain with the use of foscarbidopa-foslevodopa and compare it to other common formulations of levodopa…Modulatory effects of bacterial-derived serine protease on pathological α-synuclein fibrillation in vitro
Objective: To investigate the modulatory effects of bacterial-derived proteins on the pathological aggregation of α-synuclein (α-syn) Background: Aggregation of α-syn into toxic oligomers and protofibrils…Motor Network Neurophysiological (TMS-EEG) Markers as Predictors of Long-Term Outcomes Following Ventriculoperitoneal Shunt in Normal Pressure Hydrocephalus
Objective: Assess the ability of Delphi-MD (TMS-evoked potential (TEP)-based test) to predict long-term (over one year) response to VPS as an ancillary tool to improve decision-making. Background:…Passive smartphone-based tremor quantification in essential tremor
Objective: To develop and evaluate the accuracy of a passive smartphone-based method for detecting and quantifying essential tremor (ET) severity. Background: ET is among the…The Use of Digital Tools for Parkinson’s Phenotype Stratification to Improve Patients’ Selection for Advanced Therapies
Objective: Leveraging multimodal patient data to identify distinct multidimensional subtypes of Parkinson’s Disease and improve patient selection for appropriate advanced therapies. Background: The management of Parkinson’s condition is becoming increasingly complex and demanding as the ageing population rises. The NHSE10…
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