Article
The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
European journal of neurology - 1 Feb 2025
Alefanti Ioanna, Koros Christos, Tsami Viktoria, Simitsi Athina Maria, Kartanou Chrisoula, Papagiannakis Nikolaos, Bozi Maria, Antonelou Roubina, Maniati Matina, Hauser Ann-Kathrin, Varvaressos Stefanos, Bonakis Anastasios, Lourentzos Konstantinos, Makrythanasis Periklis, Papageorgiou Sokratis G, Proukakis Christos, Potagas Constantinos, Gasser Thomas, Koutsis Georgios, Karadima Georgia, Stefanis Leonidas
Abstract excerpt
BACKGROUND: 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...
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