Article
Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Mar 2022
Prota Joana, Rizzi Liara, Bonadia Luciana, de Souza Leonardo Cruz, Caramelli Paulo, Secolin Rodrigo, Lopes-Cendes Iscia, Balthazar Marcio L F
Abstract excerpt
INTRODUCTION: Synaptophysin, already related to X-linked intellectual disability, is expressed mainly in the central nervous system. Studies in humans indicate that the downregulation of synaptophysin could be involved in the development of dementia. Our study presents the first familial case of behavioral variant frontotemporal dementia associated with the co-occurrence of the repeat expansion in C9orf72 and a...
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