The Genetics of Parkinson’s Disease and Implications for Clinical Practice

Jacob Oliver Day; Stephen Mullin

doi:10.3390/genes12071006

The Genetics of Parkinson’s Disease and Implications for Clinical Practice

Jacob Oliver Day
, Stephen Mullin^*

^*Corresponding author for this work

Peninsula Medical School

University College London

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Pages (from-to)	1006-1006
Number of pages	0
Journal	Genes
Volume	12
Issue number	7
Early online date	30 Jun 2021
DOIs	https://doi.org/10.3390/genes12071006
Publication status	Published - 30 Jun 2021

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10.3390/genes12071006

Genes-12-01006 - Genetics of Parkinson s review - June 2021Final published version, 638 KBLicence: CC BY

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title = "The Genetics of Parkinson{\textquoteright}s Disease and Implications for Clinical Practice",

abstract = "The genetic landscape of Parkinson{\textquoteright}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.",

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AU - Mullin, Stephen

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AB - 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.

UR - https://pearl.plymouth.ac.uk/pms-research/937/

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JO - Genes

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The Genetics of Parkinson’s Disease and Implications for Clinical Practice

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