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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1129289/full |
| _version_ | 1797794967258660864 |
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| author | Clemente Dato Clemente Dato Emanuele Micaglio Giada Moresco Ornella Rondinone Paolo Vitali Paolo Vitali Carlo Pappone Laura Fontana Laura Fontana Monica Miozzo Monica Miozzo Luciano Bet |
| author_facet | Clemente Dato Clemente Dato Emanuele Micaglio Giada Moresco Ornella Rondinone Paolo Vitali Paolo Vitali Carlo Pappone Laura Fontana Laura Fontana Monica Miozzo Monica Miozzo Luciano Bet |
| author_sort | Clemente Dato |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T03:10:42Z |
| format | Article |
| id | doaj.art-48c7de3780d648d69e3a07cba7489372 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-13T03:10:42Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-48c7de3780d648d69e3a07cba74893722023-06-26T12:09:05ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-06-011410.3389/fgene.2023.11292891129289Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosisClemente Dato0Clemente Dato1Emanuele Micaglio2Giada Moresco3Ornella Rondinone4Paolo Vitali5Paolo Vitali6Carlo Pappone7Laura Fontana8Laura Fontana9Monica Miozzo10Monica Miozzo11Luciano Bet12Unit of Neurology and Stroke Unit, IRCCS Policlinico San Donato, Milan, ItalyDepartment of Neurology, Azienda Ospedaliera di Melegnano e Della Martesana, Melegnano, ItalyDepartment of Arrhythmology, IRCCS Policlinico San Donato, Milan, ItalyMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, ItalyMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Biomedical Sciences for Health, University of Milan, Milan, ItalyUnit of Radiology, IRCCS Policlinico, San Donato, Milan, ItalyDepartment of Arrhythmology, IRCCS Policlinico San Donato, Milan, ItalyMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, ItalyMedical Genetics Unit, ASST Santi Paolo e Carlo, Milan, ItalyMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, ItalyMedical Genetics Unit, ASST Santi Paolo e Carlo, Milan, ItalyUnit of Neurology and Stroke Unit, IRCCS Policlinico San Donato, Milan, ItalyWe 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.https://www.frontiersin.org/articles/10.3389/fgene.2023.1129289/fullneuroinflammationcognitive declinechoreamultiple sclerosischorea (non-Huntington’s) |
| spellingShingle | Clemente Dato Clemente Dato Emanuele Micaglio Giada Moresco Ornella Rondinone Paolo Vitali Paolo Vitali Carlo Pappone Laura Fontana Laura Fontana Monica Miozzo Monica Miozzo Luciano Bet Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis Frontiers in Genetics neuroinflammation cognitive decline chorea multiple sclerosis chorea (non-Huntington’s) |
| title | Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis |
| title_full | Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis |
| title_fullStr | Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis |
| title_full_unstemmed | Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis |
| title_short | Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis |
| title_sort | case report chorea and cognitive decline in a young woman instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis |
| topic | neuroinflammation cognitive decline chorea multiple sclerosis chorea (non-Huntington’s) |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1129289/full |
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