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…LRRK2 in Parkinson’s Disease: A per-domain rare-variant burden study
Objective: To study rare variant burden in different LRRK2 domains to investigate domain-based associations with Parkinson’s Disease (PD) and to identify functional variants in LRRK2.…Slc2a13, a risk gene for Parkinson’s disease associated with Snca and Lrrk2
Objective: To exploit the potential function of the risk gene Slc2a13 in PD progression. Background: 越来越多的证据证实了总体遗传位点和候选基因对帕金森病的贡献，以及两个最确定的风险基因，即α-突触核蛋白（Snca）和富含亮氨酸的重复激酶2（Lrrk2）。Slc2a13 编码哺乳动物肌醇转运蛋白，被认为是一种群体依赖性风险基因。越来越多的证据支持这样一种观点，即 Slc2a13 活性的改变强调了 PD 的发展。剖析转运蛋白活性降低如何导致多巴胺能神经元变性和丧失，可能会进一步加深我们对功能的理解。 Method: A total of 338 cases…MDSGene Update and Expansion: Clinical and Genetic Spectrum of LRRK2 Variants in Parkinson´s Disease
Objective: To provide a comprehensive and systematic overview of published data on carriers of pathogenic variants in the LRRK2 gene, including demographic, clinical, and genetic…Association of polygenic risk score of the LRRK2 gene for Parkinson’s disease with lysosomal hydrolase activities in the Russian Population based on genetic profile and established risk factors
Objective: To studied a previously proposed polygenic risk scores (PRSs) for PD selected for the LRRK2 gene in a genetic data set of Russian population…Characterisation and longitudinal significance of subjective cognitive decline in GBA and LRRK2 Parkinson’s disease
Objective: To investigate the clinical characteristics and predictive value associated with subjective cognitive decline (SCD) in people with Parkinson’s disease (PD) carrying pathogenic GBA or…LRRK2 and GBA Founder Mutations and their Interactions in Parkinson’s Disease
Objective: To evaluate the symptoms of Parkinson’s disease (PD) and time to diagnosis in single and dual carriers of LRRK2 G2019S and GBA N370S. Background:…RBD Unmasked: LRRK2 and the Prodromal Path to Parkinson’s Disease
Objective: The primary objective is to analyze and compare the prevalence of RBD in LRRK2-positive individuals across different stages, including healthy controls (HC), prodromal Parkinson's…
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