Parkinson's disease: genetics and pathogenesis.

@article{Shulman2011ParkinsonsDG,
  title={Parkinson's disease: genetics and pathogenesis.},
  author={Joshua M. Shulman and Philip L. De Jager and Mel B Feany},
  journal={Annual review of pathology},
  year={2011},
  volume={6},
  pages={
          193-222
        }
}
Recent investigation into the mechanisms of Parkinson's disease (PD) has generated remarkable insight while simultaneously challenging traditional conceptual frameworks. Although the disease remains defined clinically by its cardinal motor manifestations and pathologically by midbrain dopaminergic cell loss in association with Lewy bodies, it is now recognized that PD has substantially more widespread impact, causing a host of nonmotor symptoms and associated pathology in multiple regions… Expand
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November 2020 - December 2021

650 Citations

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Chapter 14 – Genetic Models of Parkinson’s Disease: Behavior, Signaling, and Pathological Features
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Recent availability of increasingly sophisticated bioinformatics technology has rendered development of fluid biomarkers feasible, opening the possibility of generally accessible blood or cerebrospinal fluid tests that could impact upon diagnosis, management, and research in PD, PDD, and DLB. Expand
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Behavioral, neurochemical and immunohistochemical analyses reveal that PD-linked mutations in Parkin and DJ-1 cause dysregulation of neurotransmitter systems beyond the nigrostriatal dopaminergic circuit and that loss-of-function mutations in parkin andDJ-1 lead to adaptive changes in dopamine and serotonin especially in the context of Gpx1 deficiency. Expand
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Progress and limitations of the multiple PD animal models available are reviewed and advances that could be implemented are identified to better understand pathological processes, improve disease outcome, and reduce dependence on animal models. Expand
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This study suggests that mutations in the ORF of the screened genes are not a common cause of PD in Saudi population; however, these findings by no means exclude the possibility that other genetic events such as gene expression/dosage alteration may be more common nor does it eliminate the possibility of the involvement of novel genes. Expand
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It is reported for the first time that systemic rotenone was able to reproduce the two pathological hallmarks of PD as well as certain parkinsonian motor deficits. Expand
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References

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TLDR
A different genetic locus that appears to be involved in the development of parkinsonism closely resembling sporadic PD is described including a similar mean age of onset (59 years in the families, 59.7 years in sporadic PD; ref. 12). Expand
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TLDR
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TLDR
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TLDR
The data suggest that parkinsonism caused by mutations in LRRK2 is likely to represent the commonest locus for autosomal dominant Parkinson's disease with a phenotype, pathology and in vivo imaging similar to idiopathic, late-onset Parkinson’s disease. Expand
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