Reprint

Parkinson's Disease: Genetics and Pathogenesis

Edited by
September 2023
238 pages
  • ISBN978-3-0365-8880-3 (Hardback)
  • ISBN978-3-0365-8881-0 (PDF)

This is a Reprint of the Special Issue Parkinson's Disease: Genetics and Pathogenesis that was published in

Biology & Life Sciences
Summary

Parkinson’s disease (PD) is the second-most common neurodegenerative disease, currently affecting more than 10 million people worldwide. There is currently no identified treatment and only symptomatic relief can be offered. The disease has clinical and pathological definitions through its cardinal motor manifestations and substantia nigra neuronal loss associated with intraneuronal Lewy bodies, respectively. The molecular mechanisms that lead to neurodegeneration remain elusive. It is becoming increasingly apparent that genetic factors contribute to its complex pathogenesis, with 90 loci from genome-wide association studies and many monogenic causes unraveled in the past years. The knowledge acquired from their protein products revealed pathways of neurodegeneration that Mendelian and sporadic Parkinsonism may share. These pathways include synaptic, lysosomal, mitochondrial, and immune-mediated mechanisms of pathogenesis. This Special Issue, “Parkinson’s Disease: Genetics and Pathogenesis”, collected 12 high-quality papers, including 7 original research articles and 5 reviews, that seek to deepen the knowledge of multiple aspects related to Parkinsonism.

Format
  • Hardback
License and Copyright
© 2022 by the authors; CC BY-NC-ND license
Keywords
Parkinson’s disease (PD); C9orf72; intermediate repeats; hexanucleotide expansions; Parkinson’s disease; GBA; macrophages; RNA-seq; transcriptome; Parkinson’s disease; genetics; diversity; post-GWAS era; genetic testing; genetics counselling; Parkinson’s disease; gene therapy; mitochondria; genome editing; Parkinson’s disease; polygenic risk score; replication; validation; prognostic value; genetic risk; genome-wide association study; Parkinson’s disease; dementia; cognition; X-linked dystonia-parkinsonism; nanopore sequencing; repeat motif; CpG methylation; monogenic; Parkinson’s disease; genomics; genetic testing; deep brain stimulation; Parkinson’s disease; Parkinson’s and related diseases; epigenetic; neurodegeneration; DNA methylation; histone modification; genetic; RNA-based gene regulation; blood transcriptomics; Parkinson’s disease; machine learning; xgboost; feature selection; oxidative stress; inflammation; mitochondrial dysfunction; Parkinson’s disease; alpha-Synuclein; minor salivary gland biopsy; immunostaining; microscopy; neuromelanin; Parkinson’s disease; genetic basis for pathophysiology; induced pluripotent stem cells; brain organoids; in vitro models of familial Parkinson’s disease; personalized medicine; n/a

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