Article
Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene.
Parkinsonism & related disorders - 1 Feb 2017
Bougea Anastasia, Koros Christos, Stamelou Maria, Simitsi Athina, Papagiannakis Nikolaos, Antonelou Roubina, Papadimitriou Dimitra, Breza Marianthi, Tasios Konstantinos, Fragkiadaki Stella, Geronicola Trapali Xenia, Bourbouli Mara, Koutsis Georgios, Papageorgiou Sokratis G, Kapaki Elisabeth, Paraskevas George P, Stefanis Leonidas
Abstract excerpt
INTRODUCTION: The p.A53T point mutation in SNCA, the alpha-synuclein gene, has been linked to a rare dominant form of Parkinson's disease (PD). METHODS: Here, we describe two apparently unrelated cases of p.A53T (G209A) SNCA mutation carriers with an atypical initial manifestation and disease course. Moreover, cerebrospinal fluid (CSF) levels of tau, p-tau and amyloid Aβ42 were measured in these patients and in...
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