Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.
chorea
chorea (non-Huntington’s)
cognitive decline
multiple sclerosis
neuroinflammation
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2023
2023
Historique:
received:
29
12
2022
accepted:
04
05
2023
medline:
12
7
2023
pubmed:
12
7
2023
entrez:
12
7
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37434948
doi: 10.3389/fgene.2023.1129289
pii: 1129289
pmc: PMC10331612
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1129289Informations de copyright
Copyright © 2023 Dato, Micaglio, Moresco, Rondinone, Vitali, Pappone, Fontana, Miozzo and Bet.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Nat Rev Dis Primers. 2018 Nov 8;4(1):43
pubmed: 30410033
Med Clin North Am. 2013 May;97(3):363-8
pubmed: 23642575
J Alzheimers Dis. 2019;67(3):1089-1106
pubmed: 30776010
Lancet Neurol. 2018 Feb;17(2):162-173
pubmed: 29275977
Lancet Neurol. 2015 Mar;14(3):302-17
pubmed: 25662900
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Mult Scler. 2013 Apr;19(5):543-52
pubmed: 23069872
Blood. 1997 Nov 15;90(10):4126-34
pubmed: 9354683
Clin Chem. 2001 Oct;47(10):1776-81
pubmed: 11568086
Dialogues Clin Neurosci. 2004 Dec;6(4):379-90
pubmed: 22034251
J Int Med Res. 2011;39(6):2402-13
pubmed: 22289560
Nat Rev Dis Primers. 2015 Oct 15;1:15056
pubmed: 27188934
Brain Res Brain Res Rev. 1995 Sep;21(2):195-218
pubmed: 8866675
J Neuroimmunol. 2000 Jun 26;105(2):189-94
pubmed: 10742562
J Neurol Sci. 2013 May 15;328(1-2):1-8
pubmed: 23522528
J Biol Chem. 1995 May 5;270(18):10388-91
pubmed: 7737970
Acta Neuropathol. 2013 Nov;126(5):659-70
pubmed: 23812320