Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early‐Onset Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28191
Abstract: Defects in the α‐synuclein, leucine‐rich repeat kinase 2, or glucocerebrosidase genes have been regarded as essential contributors to PD. However, genetic variability of these genes with respect to early‐onset PD remains poorly defined for the… read more here.
Keywords: early onset; evaluating role; snca lrrk2; lrrk2 gba ... See more keywords
Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.08.3249
Abstract: BACKGROUND Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and… read more here.
Keywords: disease; parkinson disease; gba mutation; clinical profiles ... See more keywords
Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study
Sign Up to like & getrecommendations! Published in 2020 at "The Lancet Neurology"
DOI: 10.1016/s1474-4422(19)30319-9
Abstract: BACKGROUND The Parkinson's Progression Markers Initiative (PPMI) is an ongoing observational, longitudinal cohort study of participants with Parkinson's disease, healthy controls, and carriers of the most common Parkinson's disease-related genetic mutations, which aims to define… read more here.
Keywords: healthy controls; non manifesting; parkinson disease; lrrk2 gba ... See more keywords
LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease
Sign Up to like & getrecommendations! Published in 2022 at "Translational Neurodegeneration"
DOI: 10.1186/s40035-022-00281-6
Abstract: Mutations in leucine-rich repeat kinase 2 ( LRRK2 ) and glucocerebrosidase ( GBA ) represent two most common genetic causes of Parkinson’s disease (PD). Both genes are important in the autophagic-lysosomal pathway (ALP), defects of… read more here.
Keywords: gcase; kinase; disease; lrrk2 gba ... See more keywords
Hierarchical Data-Driven Analysis of Clinical Symptoms Among Patients With Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2019.00531
Abstract: Mutations in the LRRK2 and GBA genes are the most common inherited causes of Parkinson's disease (PD). Studies exploring phenotypic differences based on genetic status used hypothesis-driven data-gathering and statistical-analyses focusing on specific symptoms, which… read more here.
Keywords: g2019s lrrk2; lrrk2 gba; data driven; parkinson disease ... See more keywords