AUTHOR=Dato Clemente , Micaglio Emanuele , Moresco Giada , Rondinone Ornella , Vitali Paolo , Pappone Carlo , Fontana Laura , Miozzo Monica , Bet Luciano 

TITLE=Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1129289

DOI=10.3389/fgene.2023.1129289

ISSN=1664-8021

ABSTRACT=<p>We describe the case of a young woman affected by debilitating chorea and rapidly progressive cognitive decline. While her original diagnosis was multiple sclerosis, we performed a full instrumental and genetic assessement, though which we identified multiple genetic variants, including a novel variant of the APP gene. We propose some possible mechanisms by which such variants may contribute to neuroinflammation and ultimately lead to this devastating clinical course.</p>