Novel
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
received:
13
10
2021
accepted:
24
01
2022
entrez:
7
3
2022
pubmed:
8
3
2022
medline:
8
3
2022
Statut:
epublish
Résumé
To report a novel association between pathogenic variants in the Clinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neuroimaging, and genetic data were described. The c.865C > T (p.P289S) and c.1297T > C (p.Y433H) missense variants in This case represents a novel form of early-onset pyramidal syndrome with optic nerve hypoplasia, which slowly evolved to extrapyramidal syndrome featuring dystonia-parkinsonism, associated with TCC, caused by
Identifiants
pubmed: 35252561
doi: 10.1212/NXG.0000000000000661
pii: NG2021017244
pmc: PMC8893591
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e661Informations de copyright
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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