caa a22 4500 445364653 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s10048-011-0292-7 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0292-7 Genetic variability in SNCA and Parkinson's disease [Elektronische Daten] [Lasse Pihlstrøm, Mathias Toft] 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. Springer-Verlag, 2011 Parkinson's disease nationallicence Genetics nationallicence SNCA nationallicence Synuclein nationallicence Association studies nationallicence Causal variant nationallicence Pihlstrøm Lasse Department of Neurology, Oslo University Hospital, Rikshospitalet, Nydalen, P.O. Box 4950, 0424, Oslo, Norway aut Toft Mathias Department of Neurology, Oslo University Hospital, Rikshospitalet, Nydalen, P.O. Box 4950, 0424, Oslo, Norway aut neurogenetics Springer-Verlag 12/4(2011-11-01), 283-293 1364-6745 12:4<283 2011 12 10048 https://doi.org/10.1007/s10048-011-0292-7 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0292-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pihlstrøm Lasse Department of Neurology, Oslo University Hospital, Rikshospitalet, Nydalen, P.O. Box 4950, 0424, Oslo, Norway aut NATIONALLICENCE 700 1- Toft Mathias Department of Neurology, Oslo University Hospital, Rikshospitalet, Nydalen, P.O. Box 4950, 0424, Oslo, Norway aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/4(2011-11-01), 283-293 1364-6745 12:4<283 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer