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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
TLDR
Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease
TLDR
The genome-wide association study of 2,000 individuals with Parkinson's disease and unaffected controls confirmed associations with SNCA and MAPT and detected a new association with the HLA region, which was uniform across all genetic and environmental risk strata and was strong in sporadic and late-onset disease.
DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease.
TLDR
It is demonstrated that total DJ-1 and alpha-synuclein in human cerebrospinal fluid are helpful diagnostic markers for Parkinson's disease, if variables such as blood contamination and age are taken into consideration.
Parkinson's disease and Parkinson's disease medications have distinct signatures of the gut microbiome
There is mounting evidence for a connection between the gut and Parkinson's disease (PD). Dysbiosis of gut microbiota could explain several features of PD.
A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.
TLDR
It is demonstrated that --1021C-->T is a major genetic marker for plasma-D beta H activity and provide new tools for investigation of the role of both D beta H and the DBH gene in human disease.
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
TLDR
This study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.
Detection of biomarkers with a multiplex quantitative proteomic platform in cerebrospinal fluid of patients with neurodegenerative disorders.
TLDR
The preliminary findings of iTRAQ suggest that a roster of proteins may be generated and developed into specific biomarkers that could eventually assist in clinical diagnosis and monitoring disease progression of AD, PD and DLB.
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
TLDR
The findings suggest that GBA mutations exert a large effect on susceptibility for Lewy body disorders at the individual level but are associated with a modest population-attributable risk in individuals of European ancestry.
Plasma exosomal α-synuclein is likely CNS-derived and increased in Parkinson’s disease
TLDR
It is discovered that CSF α-synuclein was readily transported to blood, with a small portion being contained in exosomes that are relatively specific to the central nervous system (CNS), which may lead to a more convenient and robust assessment of Parkinson’s disease clinically.
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