Novel PLA2G6 Mutation Presenting as Early-Onset Parkinson’s Disease
Objective: To report a case of a novel mutation in the PLA2G6 gene resulting in early-onset Parkinson’s Disease. Background: The phospholipase A2 group VI (PLA2G6)…Glucocerebrosidase activity does not predict Parkinson’s Disease risk or severity
Objective: To explore the association between GCase activity, PD phenotype and probability for prodromal PD among PD and non-manifesting carriers (NMC) of mutations in the…Parkinson’s Families Project: analysis of a large cohort of patients with early onset and familial Parkinson’s disease
Objective: We aim to identify new gene variants associated with familial and early-onset Parkinson's disease (PD), through genetic comparison of affected and unaffected family members.…Plasma and fecal short chain fatty acids as predictors for the risk and severity of Parkinson’s Disease
Objective: To delineate the influence of plasma and fecal short chain fatty acids (SCFAs) on the risk and severity of Parkinson’s disease (PD). Background: Recent…Neurofilament light chain serum levels in E46K-SNCA mutation carriers
Objective: To demonstrate the usefulness of measuring the concentration of neurofilament light chain (NfL) in blood using Single Molecule Array matrix (SiMoA, Quanterix) as a…Association between Hippocampal Subfields, CSF Biomarkers, and Cognition in non-demented Parkinson’s patients
Objective: To determine whether hippocampal subfield volumes in non-demented Parkinson’s Disease (PD) are primarily predicted by cognition or CSF β-amyloid 1–42 (Aβ42) levels. Background: The…DAT-IQ improves power to detect longitudinal change in DaT deficit in SURE-PD3
Objective: DATIQ has been developed as a novel analytical approach to improve the sensitivity and statistical efficiency of dopamine transporter (DaT) SPECT quantification over previously…BASELINE OLFACTION TESTING IN PARKINSON’S DISEASE PATIENTS IS CORRELATED WITH LONG-TERM DOPAMINERGIC DENERVATION IN STRIATAL SUB-REGIONS: LONGITUDINAL DATA FROM THE PPMI STUDY.
Objective: The aim of the current study was to determine whether there are longitudinal differences in dopaminergic denervation of striatal sub-regions [signal reduction in 123I-FP-CIT…Altered functional connectivity of the hippocampus in posterior-cortical subtype of cognitive impairment in Parkinson’s disease
Objective: We aimed to delineate the dual syndrome subtypes of PD-MCI using a data-driven approach and explore hippocampal functional connectivity of the posterior-cortical syndrome. Background:…Progression of brain atrophy in Parkinson’s disease is shaped by connectome and local vulnerability
Objective: Using MRI data, the aim of this longitudinal study was to map the progression of brain atrophy over four years and relate it to…
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