The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia.
Title | The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Breza, M., Koutsis G., Karadima G., Potagas C., Kartanou C., Papageorgiou S. G., Paraskevas G. P., Kapaki E., Stefanis L., & Panas M. |
Journal | Neurosci Lett |
Volume | 672 |
Pagination | 136-139 |
Date Published | 2018 Apr 13 |
ISSN | 1872-7972 |
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. |
DOI | 10.1016/j.neulet.2017.12.015 |
Alternate Journal | Neurosci. Lett. |
PubMed ID | 29233723 |