Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis
Articolo
Data di Pubblicazione:
2023
Citazione:
Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis / C. Dato, E. Micaglio, G. Moresco, O. Rondinone, P. Vitali, C. Pappone, L. Fontana, M. Miozzo, L. Bet. - In: FRONTIERS IN GENETICS. - ISSN 1664-8021. - 14:(2023 Jun 26), pp. 1129289.1-1129289.6. [10.3389/fgene.2023.1129289]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
neuroinflammation; cognitive decline; chorea; multiple sclerosis; chorea (non-Huntington's)
Elenco autori:
C. Dato, E. Micaglio, G. Moresco, O. Rondinone, P. Vitali, C. Pappone, L. Fontana, M. Miozzo, L. Bet
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