The novel p.<scp>A30G <i>SNCA</i></scp> pathogenic variant in Greek patients with familial and sporadic Parkinson's disease
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.
Authors
- Christos Proukakis (ORCID: https://orcid.org/0000-0001-6423-6539)
- Georgia Karadima (ORCID: https://orcid.org/0000-0001-7003-5717)
- Maria Bozi (ORCID: https://orcid.org/0000-0002-8775-8660)
- Constantin Potagas (ORCID: https://orcid.org/0000-0002-0291-0716)
- Konstantinos Lourentzos
- Nikolaos Papagiannakis (ORCID: https://orcid.org/0000-0002-8401-8472)
- Roubina Antonelou (ORCID: https://orcid.org/0000-0003-1485-3496)
- Christos Koros (ORCID: https://orcid.org/0000-0001-5806-0717)
- Anastasios Bonakis (ORCID: https://orcid.org/0000-0003-0509-5910)
- Thomas Gasser (ORCID: https://orcid.org/0000-0002-1069-1146)
- Ann‐Kathrin Hauser (ORCID: https://orcid.org/0009-0003-7848-5722)
- Stefanos Varvaressos
- Sokratis G. Papageorgiou (ORCID: https://orcid.org/0000-0001-8863-3635)
- Leonidas Stefanis (ORCID: https://orcid.org/0000-0003-3569-8990)
- Georgios Koutsis (ORCID: https://orcid.org/0000-0002-8980-8377)
- Ioanna Alefanti (ORCID: https://orcid.org/0009-0009-8790-4486)
- Periklis Makrythanasis
- Athina Maria Simitsi
- Chrisoula Kartanou
- Matina Maniati
- Viktoria Tsami
Institutions
- National and Kapodistrian University of Athens (GR)
- German Center for Neurodegenerative Diseases (DE)
- Biomedical Research Foundation of the Academy of Athens (GR)
- University General Hospital Attikon (GR)
- Eginition Hospital (GR)
- Hertie Institute for Clinical Brain Research (DE)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- University of Tübingen (DE)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-01-29
- DOI
- https://doi.org/10.1111/ene.16562
- Citations
- 2
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 2.78