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

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 o...

Descripción completa

Detalles Bibliográficos
Autores principales: Day, Jacob Oliver, Mullin, Stephen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304082/
https://www.ncbi.nlm.nih.gov/pubmed/34208795
http://dx.doi.org/10.3390/genes12071006
_version_ 1783727247636561920
author Day, Jacob Oliver
Mullin, Stephen
author_facet Day, Jacob Oliver
Mullin, Stephen
author_sort Day, Jacob Oliver
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8304082
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-83040822021-07-25 The Genetics of Parkinson’s Disease and Implications for Clinical Practice Day, Jacob Oliver Mullin, Stephen Genes (Basel) Review 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. MDPI 2021-06-30 /pmc/articles/PMC8304082/ /pubmed/34208795 http://dx.doi.org/10.3390/genes12071006 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Day, Jacob Oliver
Mullin, Stephen
The Genetics of Parkinson’s Disease and Implications for Clinical Practice
title The Genetics of Parkinson’s Disease and Implications for Clinical Practice
title_full The Genetics of Parkinson’s Disease and Implications for Clinical Practice
title_fullStr The Genetics of Parkinson’s Disease and Implications for Clinical Practice
title_full_unstemmed The Genetics of Parkinson’s Disease and Implications for Clinical Practice
title_short The Genetics of Parkinson’s Disease and Implications for Clinical Practice
title_sort genetics of parkinson’s disease and implications for clinical practice
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304082/
https://www.ncbi.nlm.nih.gov/pubmed/34208795
http://dx.doi.org/10.3390/genes12071006
work_keys_str_mv AT dayjacoboliver thegeneticsofparkinsonsdiseaseandimplicationsforclinicalpractice
AT mullinstephen thegeneticsofparkinsonsdiseaseandimplicationsforclinicalpractice
AT dayjacoboliver geneticsofparkinsonsdiseaseandimplicationsforclinicalpractice
AT mullinstephen geneticsofparkinsonsdiseaseandimplicationsforclinicalpractice

Ejemplares similares