Asymptomatic carriers of the p.A53T SNCA mutation: Data from the PPMI study. (May 2022)

• Record Type: Journal Article
• Authors: Simitsi, Athina Maria; Koros, Christos; Stamelou, Maria; Beratis, Ion; Efthymiopoulou, Efthymia; Papadimitriou, Dimitra; Bougea, Anastasia; Picillo, Marina; Stanitsa, Evangelia; Papagiannakis, Nikolaos; Antonelou, Roubina; Pachi, Ioanna; Papageorgiou, Sokratis G.; Barone, Paolo; Stefanis, Leonidas
• Is Part Of: Parkinsonism & related disorders. Volume 98(2022)
• Page Start: 72
• Page End: 74
• Publication Date: 2022-05
• Subjects: Alpha-synuclein -- Parkinson's disease -- Asymptomatic carriers -- Non-motor symptoms; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2022.04.001
• Languages: English
• ISSNs: 1353-8020

Abstract

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. Highlights: Olfactory function is more affected in A53T-AC compared to HC. We found a strong positive correlation between UPSIT score and MOCA in A53T-AC but not in HC. Anxiety was more prevalent in A53T-AC.