Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene

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• 作者：Anastasia Bougea^a ; ¹ ; Christos Koros^b ; ¹ ; Maria Stamelou^b ; ^c ; Athina Simitsi^b ; Nikolaos Papagiannakis^b ; Roubina Antonelou^b ; Dimitra Papadimitriou^d ; Marianthi Breza^f ; Konstantinos Tasios^b ; Stella Fragkiadaki^b ; Xenia Geronicola Trapali^e ; Mara Bourbouli^a ; Georgios Koutsis^f ; Sokratis G. Papageorgiou^b ; Elisabeth Kapaki^a ; George P. Paraskevas^a ; ¹ ; Leonidas Stefanis^b ; ^g ; ¹ ; ^{lstefanis@bioacademy.gr}
• 关键词：Parkinson's disease ; Alpha-synuclein ; Frontotemporal dementia ; Dysexecutive syndrome ; Tau protein
• 刊名：Parkinsonism & Related Disorders
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：35
• 期：Complete
• 页码：82-87
• 全文大小：1403 K
• 卷排序：35

文摘

The p.A53T mutation in SNCA gene may have a frontotemporal dementia-like phenotype. Brain MRI showed fronto-temporo-parietal atrophy resembling FTD. CSF tau protein levels were elevated in patients with early cognitive decline. CSF tau protein levels were normal in non-demented p.A53T carriers.