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. 2022 May:98:72-74.
doi: 10.1016/j.parkreldis.2022.04.001. Epub 2022 Apr 19.

Asymptomatic carriers of the p.A53T SNCA mutation: Data from the PPMI study

Athina Maria Simitsi  1 , Christos Koros  1 , Maria Stamelou  2 , Ion Beratis  1 , Efthymia Efthymiopoulou  1 , Dimitra Papadimitriou  3 , Anastasia Bougea  1 , Marina Picillo  4 , Evangelia Stanitsa  1 , Nikolaos Papagiannakis  1 , Roubina Antonelou  1 , Ioanna Pachi  1 , Sokratis G Papageorgiou  1 , Paolo Barone  4 , Leonidas Stefanis  5
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Asymptomatic carriers of the p.A53T SNCA mutation: Data from the PPMI study

Athina Maria Simitsi et al. Parkinsonism Relat Disord. 2022 May.

Abstract

We assessed non motor characteristics of 12 asymptomatic p.A53T mutation carriers (A53T-AC) compared with 36 healthy controls (HC) enrolled in the Parkinson's Progression Markers Initiative (PPMI) study. Olfaction score was lower and anxiety was marginally more prevalent in A53T- AC. These findings suggest distinct prodromal features in this group of subjects.

Keywords: Alpha-synuclein; Asymptomatic carriers; Non-motor symptoms; Parkinson's disease.

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