| Literature DB >> 29288112 |
Hao Deng1, Peng Wang2, Joseph Jankovic3.
Abstract
About 15% of patients with Parkinson disease (PD) have family history and 5-10% have a monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for sporadic PD phenotype have been identified in various association studies. Investigating the mutated protein products has uncovered potential pathogenic pathways that provide insights into mechanisms of neurodegeneration in familial and sporadic PD. To commemorate the 200th anniversary of Parkinson's publication of An Essay on the Shaking Palsy, we provide a comprehensive and critical overview of the current clinical, neuropathological, and genetic understanding of genetic forms of PD. We also discuss advances in screening for genetic PD-related risk factors and how they impact genetic counseling and contribute to the development of potential disease-modifying therapies.Entities:
Keywords: Animal model; Genetic; Molecular pathway; Mutation; Parkinson disease
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Year: 2017 PMID： 29288112 DOI： 10.1016/j.arr.2017.12.007
Source DB: PubMed Journal: Ageing Res Rev ISSN： 1568-1637 Impact factor: 10.895