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Published in:

01-11-2011 | REVIEW ARTICLE

Genetic variability in SNCA and Parkinson’s disease

Authors: Lasse Pihlstrøm, Mathias Toft

Published in: Neurogenetics | Issue 4/2011

Abstract

Over the last decades, increasing knowledge about the genetic architecture of Parkinson’s disease has provided novel insights into the pathogenesis of the disorder, generating hypotheses for further research. Characterizing the role of SNCA, encoding the α-synuclein protein, has been a particularly important aspect of this development. The identification of SNCA as the first gene implicated in monogenic parkinsonism led to the recognition of α-synuclein as a key protein in the pathogenesis and a major component of pathological hallmark lesions. An association between common variants in SNCA and risk of sporadic Parkinson’s disease has been established through numerous studies. We review our current understanding of SNCA variability contributing to Parkinson’s disease, highlighting the characterization of functionally relevant susceptibility alleles as a major future challenge. We argue that new strategies will be needed to pinpoint the variants that are ultimately responsible for the signals detected in association studies, where targeted resequencing may represent an attractive initial approach.

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Title: Genetic variability in SNCA and Parkinson’s disease
Authors: Lasse Pihlstrøm
Mathias Toft
Publication date: 01-11-2011
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 4/2011
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-011-0292-7

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Genetic variability in SNCA and Parkinson’s disease

Abstract

Keynote webinar | Spotlight on medication adherence

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Abstract

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