Clinical phenotype of non-manifesting carriers of mutations in the GBA and LRRK2 genes
Objective: To explore the influence of carrying mutations in both the GBA and LRRK2 genes (dual mutation carriers) on risk for future development of Parkinson's…Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations
Objective: To systematically examine the Columbia University LRRK2 brain bank for TDP-43 deposits Background: LRRK2 G2019S mutations have been associated with parkinsonism and a wide range of…The mitochondrial risk score and lifestyle factors are associated with age at onset in LRRK2 p.Gly2019Ser Parkinson’s disease.
Objective: To investigate the relationship between a mitochondrial risk score (MRS), lifestyle and age at onset (AAO) in LRRK2 G2019S Parkinson’s disease (PD). Background: PD…A case with clinical features of alpha-synuclein- and tauopathy: Genetic and histopathological workup.
Objective: Here, we present a clinical case that mimicked the coincidence of idiopathic Parkinson’s disease (PD) and tauopathy. Background: Mutation in leucine-rich-repeat-kinase 2 (LRRK2) gene…Reduced serum PRDX3 levels are a biomarker for Asian LRRK2 carriers in Parkinson’s disease
Objective: We measured serum peroxiredoxin-3 (PRDX3) levels in Parkinson’s disease (PD) patients with and without LRRK2 risk variants, hypothesizing that PD LRRK2 carriers will show…Mutations in GBA and LRRK2 are not associated with increased inflammatory markers
Objective: To assess central and peripheral cytokines among Parkinson's disease (PD) patients with mutations in the LRRK2 and GBA genes as well as among non-manifesting…LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Protocol and feasibility study
Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in 1,000 participants internationally: 300 with LRRK2 (Leucine-rich repeat…Correlating LRRK2 activation status in peripheral blood to urine BMPs in monogenic and idiopathic Parkinson’s disease
Objective: The greatest unmet need in Parkinson’s disease (PD) are disease-modifying treatments. The discovery of monogenic forms of PD has provided invaluable insights into pathomechanisms…Overcoming clinical research challenges during a pandemic: selection and implementation of digital phenotyping solutions in a natural history study of G2019S LRRK2 Parkinson’s disease.
Objective: To identify candidate wearable devices or digital solutions suitable for conducting the Timed Up and Go (TUG) test and evaluate real-world performance remotely during…LRRK2 Inhibition by BIIB122 / DNL151: Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics in Ph 1 Healthy Volunteer and Ph 1B Parkinson’s Disease Trials
Objective: To evaluate safety, tolerability, pharmacokinetics (PK), and pharmacodynamics of the LRRK2 inhibitor, DNL151 (BIIB122), in healthy volunteers (HVs) and Parkinson’s disease (PD) patients. Background:…
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