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@ARTICLE{Alefanti:276324,
      author       = {Alefanti, Ioanna and Koros, Christos and Tsami, Viktoria
                      and Simitsi, Athina Maria and Kartanou, Chrisoula and
                      Papagiannakis, Nikolaos and Bozi, Maria and Antonelou,
                      Roubina and Maniati, Matina and Hauser, Ann-Kathrin and
                      Varvaressos, Stefanos and Bonakis, Anastasios and
                      Lourentzos, Konstantinos and Makrythanasis, Periklis and
                      Papageorgiou, Sokratis G and Proukakis, Christos and
                      Potagas, Constantinos and Gasser, Thomas and Koutsis,
                      Georgios and Karadima, Georgia and Stefanis, Leonidas},
      title        = {{T}he novel p.{A}30{G} {SNCA} pathogenic variant in {G}reek
                      patients with familial and sporadic {P}arkinson's disease.},
      journal      = {European journal of neurology},
      volume       = {32},
      number       = {2},
      issn         = {1351-5101},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DZNE-2025-00287},
      pages        = {e16562},
      year         = {2025},
      abstract     = {The p.A53T variant in the SNCA gene was considered, until
                      recently, to be the only SNCA variant causing familial
                      Parkinson's disease (PD) in the Greek population. We
                      identified a novel heterozygous p.A30G (c.89 C>G) SNCA
                      pathogenic variant in five affected individuals of three
                      Greek families, leading to autosomal dominant PD. This study
                      aims to further explore the presence and phenotypic
                      expression of this variant in the Greek PD
                      population.Restriction fragment length polymorphism (RFLPs)
                      was used for genotyping of 664 Greek PD cases. Detailed
                      clinical information was obtained for the carriers and
                      p.A30G-positive samples underwent haplotype analysis.We
                      identified 10 additional p.A30G-positive PD patients
                      $(1.5\%),$ of whom 4 were sporadic cases $(0.9\%).$ They
                      manifested typical Parkinsonian motor dysfunction, with a
                      mean age of onset of 51.7 years (range: 33-62) and a broad
                      spectrum of non-motor symptoms. The absence of affected
                      first degree relatives in four out of ten index cases, and
                      the presence of a phenocopy in an additional family, suggest
                      that the p.A30G variant manifests reduced penetrance. The
                      common haplotype among the p.A30G carriers confirmed a
                      founder effect. Furthermore, two asymptomatic carriers were
                      identified, with possible premotor manifestations.These
                      findings underscore that the p.A30G SNCA pathogenic variant
                      represents an important, albeit rare, cause of genetic PD in
                      the Greek population. This is the first time in which a
                      genetic synucleinopathy, with a variant in the SNCA gene, is
                      clearly linked to an appreciable frequency of sporadic PD in
                      a particular population.},
      keywords     = {Humans / alpha-Synuclein: genetics / Parkinson Disease:
                      genetics / Greece / Male / Middle Aged / Female / Adult /
                      Aged / Pedigree / Haplotypes / Genetic Predisposition to
                      Disease: genetics / SNCA (Other) / Greek population (Other)
                      / Parkinson's disease (Other) / p.A30G (Other) /
                      alpha-Synuclein (NLM Chemicals) / SNCA protein, human (NLM
                      Chemicals)},
      cin          = {AG Gasser / ICRU},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)1240005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 899 -
                      ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39878395},
      doi          = {10.1111/ene.16562},
      url          = {https://pub.dzne.de/record/276324},
}