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MDS clinical diagnostic criteria for Parkinson's disease
TLDR
The Movement Disorder Society PD Criteria retain motor parkinsonism as the core feature of the disease, defined as bradykinesia plus rest tremor or rigidity, and two levels of certainty are delineated: clinically established PD and probable PD. Expand
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease
TLDR
It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided. Expand
The Parkinson Progression Marker Initiative (PPMI)
The Parkinson Progression Marker Initiative (PPMI) is a comprehensive observational, international, multi-center study designed to identify PD progression biomarkers both to improve understanding ofExpand
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. Expand
MDS research criteria for prodromal Parkinson's disease
TLDR
These criteria represent a first step in the formal delineation of early stages of PD and will require constant updating as more information becomes available. Expand
Loss-of-Function of Human PINK1 Results in Mitochondrial Pathology and Can Be Rescued by Parkin
TLDR
The results may suggest that PINK1 deficiency in humans results in mitochondrial abnormalities associated with cellular stress, a pathological phenotype, which can be ameliorated by enhanced expression of parkin. Expand
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
TLDR
The results provide a novel link between mitochondrial dysfunction and neurodegeneration in PD and to a lesser extent, the risk allele of the A141S polymorphism induced mitochondrial dysfunction associated with altered mitochondrial morphology. Expand
Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression.
TLDR
It is shown that multiple PD-associated phenotypes were ameliorated by inhibition of ERK, providing mechanistic insight into the pathogenesis induced by mutant LRRK2 and pointers for the development of potential new therapeutics. Expand
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.
TLDR
Induced pluripotent stem cells are generated from subjects with GD and PD harbouring GBA1 mutations and complex changes in the autophagic/lysosomal system and intracellular calcium homeostasis, which underlie vulnerability to neurodegeneration are provided. Expand
Transcranial sonography in movement disorders
TLDR
Transcranial B-mode sonography is a reliable, non-invasive, commonly available, easily applicable, and inexpensive method, which provides new information about the morphology of the brain to help the diagnosis of various movement disorders and could be recommended for general application in the diagnosis and differential diagnosis of PD. Expand
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