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@ARTICLE{Liu:155632,
      author       = {Liu, Hui and Koros, Christos and Strohäker, Timo and
                      Schulte, Claudia and Bozi, Maria and Varvaresos, Stefanos
                      and Ibáñez de Opakua, Alain and Simitsi, Athina Maria and
                      Bougea, Anastasia and Voumvourakis, Konstantinos and
                      Maniati, Matina and Papageorgiou, Sokratis G and Hauser,
                      Ann-Kathrin and Becker, Stefan and Zweckstetter, Markus and
                      Stefanis, Leonidas and Gasser, Thomas},
      title        = {{A} {N}ovel {SNCA} {A}30{G} {M}utation {C}auses {F}amilial
                      {P}arkinson's {D}isease.},
      journal      = {Movement disorders},
      volume       = {36},
      number       = {7},
      issn         = {1531-8257},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2021-00800},
      pages        = {1624 - 1633},
      year         = {2021},
      abstract     = {The SNCA gene encoding α-synuclein (αSyn) is the first
                      gene identified to cause autosomal-dominant Parkinson's
                      disease (PD).We report the identification of a novel
                      heterozygous A30G mutation of the SNCA gene in familial PD
                      and describe clinical features of affected patients, genetic
                      findings, and functional consequences.Whole exome sequencing
                      was performed in the discovery family proband. Restriction
                      digestion with Bbvl was used to screen SNCA A30G in two
                      validation cohorts. The Greek cohort included 177 familial
                      PD probands, 109 sporadic PD cases, and 377 neurologically
                      healthy controls. The German cohort included 136 familial PD
                      probands, 380 sporadic PD cases, and 116 neurologically
                      healthy controls. We also conducted haplotype analysis using
                      13 common single nucleotide variants around A30G to
                      determine the possibility of a founder effect for A30G. We
                      then used biophysical methods to characterize A30G αSyn.We
                      identified a novel SNCA A30G (GRCh37, Chr4:90756730, c.89
                      C>G) mutation that co-segregated with the disease in five
                      affected individuals of three Greek families and was absent
                      from controls. A founder effect was strongly suggested by
                      haplotype analysis. The A30G mutation had a local effect on
                      the intrinsically disordered structure of αSyn, slightly
                      perturbed membrane binding, and promoted fibril
                      formation.Based on the identification of A30G co-segregating
                      with the disease in three families, the absence of the
                      mutation in controls and population databases, and the
                      observed functional effects, we propose SNCA A30G as a novel
                      causative mutation for familial PD. © 2021 The Authors.
                      Movement Disorders published by Wiley Periodicals LLC on
                      behalf of International Parkinson and Movement Disorder
                      Society.},
      keywords     = {Founder Effect / Greece / Humans / Mutation: genetics /
                      Parkinson Disease: genetics / alpha-Synuclein: genetics /
                      A30G (Other) / Parkinsonʼs disease (Other) / SNCA (Other) /
                      SNCA protein, human (NLM Chemicals) / alpha-Synuclein (NLM
                      Chemicals)},
      cin          = {AG Zweckstetter / AG Berg ; AG Berg / AG Gasser 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1410001 / I:(DE-2719)5000055 /
                      I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33617693},
      doi          = {10.1002/mds.28534},
      url          = {https://pub.dzne.de/record/155632},
}