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

ABSTRACT: 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.

SUBMITTER: Dato C

PROVIDER: S-EPMC10331612 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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

Dato Clemente C Micaglio Emanuele E Moresco Giada G Rondinone Ornella O Vitali Paolo P Pappone Carlo C Fontana Laura L Miozzo Monica M Bet Luciano L

Frontiers in genetics 20230626

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. ...[more]

PMID: 37434948

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