Article
A Novel SNCA A30G Mutation Causes Familial Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2021
Liu Hui, Koros Christos, Strohäker Timo, Schulte Claudia, Bozi Maria, Varvaresos Stefanos, Ibáñez de Opakua Alain, Simitsi Athina Maria, Bougea Anastasia, Voumvourakis Konstantinos, Maniati Matina, Papageorgiou Sokratis G, Hauser Ann-Kathrin, Becker Stefan, Zweckstetter Markus, Stefanis Leonidas, Gasser Thomas
Abstract excerpt
BACKGROUND: The SNCA gene encoding α-synuclein (αSyn) is the first gene identified to cause autosomal-dominant Parkinson's disease (PD). OBJECTIVE: 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. METHODS: Whole exome sequencing was performed in the discovery family...
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