Article
The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia.
Neuroscience letters - 13 Apr 2018
Breza Marianthi, Koutsis Georgios, Karadima Georgia, Potagas Constantin, Kartanou Chrisoula, Papageorgiou Sokratis G, Paraskevas George P, Kapaki Elisabeth, Stefanis Leonidas, Panas Marios
Abstract excerpt
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...
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