TY  - JOUR
AU  - Alefanti, Ioanna
AU  - Koros, Christos
AU  - Tsami, Viktoria
AU  - Simitsi, Athina Maria
AU  - Kartanou, Chrisoula
AU  - Papagiannakis, Nikolaos
AU  - Bozi, Maria
AU  - Antonelou, Roubina
AU  - Maniati, Matina
AU  - Hauser, Ann-Kathrin
AU  - Varvaressos, Stefanos
AU  - Bonakis, Anastasios
AU  - Lourentzos, Konstantinos
AU  - Makrythanasis, Periklis
AU  - Papageorgiou, Sokratis G
AU  - Proukakis, Christos
AU  - Potagas, Constantinos
AU  - Gasser, Thomas
AU  - Koutsis, Georgios
AU  - Karadima, Georgia
AU  - Stefanis, Leonidas
TI  - The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
JO  - European journal of neurology
VL  - 32
IS  - 2
SN  - 1351-5101
CY  - Oxford [u.a.]
PB  - Wiley-Blackwell
M1  - DZNE-2025-00287
SP  - e16562
PY  - 2025
AB  - 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
KW  - Humans
KW  - alpha-Synuclein: genetics
KW  - Parkinson Disease: genetics
KW  - Greece
KW  - Male
KW  - Middle Aged
KW  - Female
KW  - Adult
KW  - Aged
KW  - Pedigree
KW  - Haplotypes
KW  - Genetic Predisposition to Disease: genetics
KW  - SNCA (Other)
KW  - Greek population (Other)
KW  - Parkinson's disease (Other)
KW  - p.A30G (Other)
KW  - alpha-Synuclein (NLM Chemicals)
KW  - SNCA protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:39878395
DO  - DOI:10.1111/ene.16562
UR  - https://pub.dzne.de/record/276324
ER  -