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Phenomenology and classification of dystonia: A consensus update
- A. Albanese, K. Bhatia, J. Teller
- Psychology, MedicineMovement disorders : official journal of the…
- 15 June 2013
An international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia provides a new general definition and proposes a new classification and encourages clinicians and researchers to use these innovative definitions and test them in the clinical setting on a variety of patients with Dystonia.
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease
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.
Genetics of Parkinson's disease.
This article will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing.
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.
To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several monogenic forms have been identified.1 Recen...
Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with Familial Parkinson’s Disease
Analysis of mitochondrial responses in iPSC-derived neural cells from PD patients carrying different mutations provides insight into convergence of cellular disease mechanisms between different familial forms of PD and highlights the importance of oxidative stress and mitochondrial dysfunction in this neurodegenerative disease.
Parkin and PINK1 mitigate STING-induced inflammation
Results support a role for PINK1- and parkin-mediated mitophagy in restraining innate immunity and the loss of dopaminergic neurons from the substantia nigra pars compacta and the motor defect observed in aged Prkn−/−;mutator mice are rescued by loss of STING, suggesting that inflammation facilitates this phenotype.
Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells
- P. Seibler, J. Graziotto, H. Jeong, F. Šimunović, C. Klein, D. Krainc
- BiologyThe Journal of Neuroscience
- 20 April 2011
The generation of induced pluripotent stem cells from skin fibroblasts from genetic PD can be reprogrammed and differentiated into neurons that exhibit distinct phenotypes that should be amenable to further mechanistic studies in this relevant biological context.
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
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.
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration
- B. Dehay, A. Ramírez, E. Bézard
- Biology, ChemistryProceedings of the National Academy of Sciences
- 30 May 2012
It is shown that PD-linked mutations in ATP13A2 lead to several lysosomal alterations in PD patient-derived fibroblasts, including impaired lyssomal acidification, decreased proteolytic processing of lysOSomal enzymes, reduced degradation of lYSosomal substrates, and diminished lysoomal-mediated clearance of autophagosomes.