A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease

Abstract There is great heterogeneity in both the clinical presentation and rate of disease progression among patients with Parkinson’s disease (PD). This can pose prognostic difficulties in a clinical setting, and a greater understanding of the risk factors that contribute to modify disease course...

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Autores principales:	Camilla Christina Pedersen, Johannes Lange, Marthe Gurine Gunnarsdatter Førland, Angus D. Macleod, Guido Alves, Jodi Maple-Grødem
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/d186f9b865414d23a630f1656710a674
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spelling	oai:doaj.org-article:d186f9b865414d23a630f1656710a6742021-12-02T16:13:42ZA systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease10.1038/s41531-021-00196-52373-8057https://doaj.org/article/d186f9b865414d23a630f1656710a6742021-07-01T00:00:00Zhttps://doi.org/10.1038/s41531-021-00196-5https://doaj.org/toc/2373-8057Abstract There is great heterogeneity in both the clinical presentation and rate of disease progression among patients with Parkinson’s disease (PD). This can pose prognostic difficulties in a clinical setting, and a greater understanding of the risk factors that contribute to modify disease course is of clear importance for optimizing patient care and clinical trial design. Genetic variants in SNCA are an established risk factor for PD and are candidates to modify disease presentation and progression. This systematic review aimed to summarize all available primary research reporting the association of SNCA polymorphisms with features of PD. We systematically searched PubMed and Web of Science, from inception to 1 June 2020, for studies evaluating the association of common SNCA variants with age at onset (AAO) or any clinical feature attributed to PD in patients with idiopathic PD. Fifty-eight studies were included in the review that investigated the association between SNCA polymorphisms and a broad range of outcomes, including motor and cognitive impairment, sleep disorders, mental health, hyposmia, or AAO. The most reproducible findings were with the REP1 polymorphism or rs356219 and an earlier AAO, but no clear associations were identified with an SNCA polymorphism and any individual clinical outcome. The results of this comprehensive summary suggest that, while there is evidence that genetic variance in the SNCA region may have a small impact on clinical outcomes in PD, the mechanisms underlying the association of SNCA polymorphisms with PD risk may not be a major factor driving clinical heterogeneity in PD.Camilla Christina PedersenJohannes LangeMarthe Gurine Gunnarsdatter FørlandAngus D. MacleodGuido AlvesJodi Maple-GrødemNature PortfolioarticleNeurology. Diseases of the nervous systemRC346-429ENnpj Parkinson's Disease, Vol 7, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurology. Diseases of the nervous system RC346-429 Camilla Christina Pedersen Johannes Lange Marthe Gurine Gunnarsdatter Førland Angus D. Macleod Guido Alves Jodi Maple-Grødem A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease
description	Abstract There is great heterogeneity in both the clinical presentation and rate of disease progression among patients with Parkinson’s disease (PD). This can pose prognostic difficulties in a clinical setting, and a greater understanding of the risk factors that contribute to modify disease course is of clear importance for optimizing patient care and clinical trial design. Genetic variants in SNCA are an established risk factor for PD and are candidates to modify disease presentation and progression. This systematic review aimed to summarize all available primary research reporting the association of SNCA polymorphisms with features of PD. We systematically searched PubMed and Web of Science, from inception to 1 June 2020, for studies evaluating the association of common SNCA variants with age at onset (AAO) or any clinical feature attributed to PD in patients with idiopathic PD. Fifty-eight studies were included in the review that investigated the association between SNCA polymorphisms and a broad range of outcomes, including motor and cognitive impairment, sleep disorders, mental health, hyposmia, or AAO. The most reproducible findings were with the REP1 polymorphism or rs356219 and an earlier AAO, but no clear associations were identified with an SNCA polymorphism and any individual clinical outcome. The results of this comprehensive summary suggest that, while there is evidence that genetic variance in the SNCA region may have a small impact on clinical outcomes in PD, the mechanisms underlying the association of SNCA polymorphisms with PD risk may not be a major factor driving clinical heterogeneity in PD.
format	article
author	Camilla Christina Pedersen Johannes Lange Marthe Gurine Gunnarsdatter Førland Angus D. Macleod Guido Alves Jodi Maple-Grødem
author_facet	Camilla Christina Pedersen Johannes Lange Marthe Gurine Gunnarsdatter Førland Angus D. Macleod Guido Alves Jodi Maple-Grødem
author_sort	Camilla Christina Pedersen
title	A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease
title_short	A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease
title_full	A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease
title_fullStr	A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease
title_full_unstemmed	A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease
title_sort	systematic review of associations between common snca variants and clinical heterogeneity in parkinson’s disease
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d186f9b865414d23a630f1656710a674
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A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease

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