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The Genetics of Parkinson's Disease and Implications for Clinical Practice.


ABSTRACT: The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD. We summarise these genetic influences and discuss the implications for therapeutics and clinical trial design.

SUBMITTER: Day JO 

PROVIDER: S-EPMC8304082 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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The Genetics of Parkinson's Disease and Implications for Clinical Practice.

Day Jacob Oliver JO   Mullin Stephen S  

Genes 20210630 7


The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD. We summarise these genetic influences and discuss the implications  ...[more]

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