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

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 vari...

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Detalles Bibliográficos
Autores principales: Dato, Clemente, Micaglio, Emanuele, Moresco, Giada, Rondinone, Ornella, Vitali, Paolo, Pappone, Carlo, Fontana, Laura, Miozzo, Monica, Bet, Luciano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331612/
https://www.ncbi.nlm.nih.gov/pubmed/37434948
http://dx.doi.org/10.3389/fgene.2023.1129289

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331612/
https://www.ncbi.nlm.nih.gov/pubmed/37434948
http://dx.doi.org/10.3389/fgene.2023.1129289

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