Sleep Characteristics in Idiopathic and Genetic Parkinson’s Disease
Objective: To investigate sleep features among individuals with genetic subgroups of PD, including LRRK2 G2019S-PD, GBA-PD, and iPD (idiopathic PD with no known genetic variant). Background:…LRRK2 G2019S mutant damages mitochondrial transfer by a Drp1-STX17 depend pathway in Parkinson’s disease
Objective: We focus on the novel endogenous neural repair function that comes from the mitochondrial transfer, and we aim to elucidate the molecular mechanism by…Frequency of LRRK2 p.L1795F variant in Parkinson’s Disease patients from Central Europe within the CEGEMOD consortium
Objective: The aim of this study was to investigate the presence of LRRK2 p.L1795F variant in PD patients from Central Europe. Background: Pathogenic variants in…The role of LRRK2 in regulating microglial activity in Parkinson’s disease
Objective: To investigate the effects of pathogenic LRRK2 mutations on lysosomal function and phagocytic activity of microglia. Background: The LRRK2 G2019S mutation is one of…Screening for newly PD-associated RAB32 p.S71R variant in Latin America
Objective: Our aim was to identify whether a novel putative pathogenic variant in RAB32, a gene recently associated with familial forms of Parkinson’s Disease (PD),…Rationale for LRRK2 inhibition in sporadic Parkinson’s disease and the LUMA trial
Objective: To summarize the rationale for LRRK2 inhibition in sporadic PD patients without LRRK2 mutations, and to describe the current design of the LUMA study,…LRRK2 Gene Mutation in Parkinson’s Disease
Objective: We aim to describe the clinical characteristics of PD linked to an LRRK2 mutation. Background: One of the most common monogenic forms of Parkinson's…LRRK2-Associated Parkinsonism With and Without In Vivo Evidence of Pathologic Alpha-Synuclein: Clinical and Biomarker Characterization
Objective: To compare clinical and biomarker features and rate of progression among LRRK2-associated parkinsonism cases with and without in vivo evidence of pathologic alpha-synuclein (asyn)…LRRK2 I1371V Mutation: Unraveling Pathogenic Mechanisms in Dopaminergic Neurons via Membrane Fluidity & Calcium Dysregulation using PD Patient iPSCs
Objective: To estimate pathogenicity of LRRK2 I1371V mutation in PD patient iPSC-derived DA-neurons & assess underlying disease mechanisms involving membrane fluidity, Ca2+ dysregulation, & Rab8A/Rab10…Clinical and Brain Morphological Characteristics of Early LRRK2-associated Parkinson Disease
Objective: To investigate the impact of LRRK2 mutation in Parkinson disease (PD) and to explore the preclinical markers of LRRK2 mutation carriers who will develop…
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