The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia. (13th April 2018)

• Record Type: Journal Article
• Authors: Breza, Marianthi; Koutsis, Georgios; Karadima, Georgia; Potagas, Constantin; Kartanou, Chrisoula; Papageorgiou, Sokratis G.; Paraskevas, George P.; Kapaki, Elisabeth; Stefanis, Leonidas; Panas, Marios
• Is Part Of: Neuroscience letters. Volume 672(2018)
• Page Start: 136
• Page End: 139
• Publication Date: 2018-04-13
• Subjects: A53T -- Parkinsonism -- Dementia -- Parkinson's disease -- Frontotemporal dementia -- Greek cohort -- Alpha-synuclein; Neurology -- Periodicals; Neurology -- Periodicals; Research -- Periodicals; Neurologie -- Périodiques; Neuroanatomie -- Périodiques; Neuropharmacologie -- Périodiques; Neurophysiologie -- Périodiques; Neurology; Periodicals; Electronic journals; 617.48
• DOI: 10.1016/j.neulet.2017.12.015
• Languages: English
• ISSNs: 0304-3940

Abstract

Highlights: The p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia. A53T-positive patients usually present with pure parkinsonism but rarely may present with dementia. Greek PD patients with positive family history and/or early onset should undergo testing for the p. A53T mutation. Abstract: Background: The p. A53T mutation in the alpha-synuclein ( SNCA ) gene is a rare cause of autosomal dominant Parkinson's disease (PD). Although generally rare, it is particularly common in the Greek population due to a founder effect. A53T-positive PD patients often develop dementia during disease course and may very rarely present with dementia. Methods: We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens. Cases were classified into: "pure parkinsonism", "pure dementia" and "parkinsonism plus dementia". Results: In total, 4 p. A53T SNCA mutation carriers were identified. All had autosomal dominant family history and early onset. Screening of the "pure parkinsonism" category revealed 2 cases with typical PD. The other two mutation carriers were identified in the "parkinsonism plus dementia" category. One had a diagnosis of PD dementia and the other of behavioral variant frontotemporal dementia. Screening of patients with "pure dementia" failed to identify any further A53T-positive cases. Conclusions: Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history.