Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia

Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia

Abstract We identified an autosomal dominant progranulin mutation carrier without symptoms of dementia in her lifetime (Reduced Penetrance Mutation Carrier, RedPenMC). This resistance to develop expected pathology presents a unique opportunity to interrogate neurodegenerative mechanisms. We performe...

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Bibliographic Details
Main Authors: Karthick Natarajan, Jesper Eisfeldt, Maria Hammond, José Miguel Laffita-Mesa, Kalicharan Patra, Behzad Khoshnood, Linn Öijerstedt, Caroline Graff
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Acta Neuropathologica Communications
Subjects:
Progranulin
Haploinsufficiency
Human genetic disorders
Neurodegenerative disorders
Nuclei multiplexing
CITE-Seq
Online Access:https://doi.org/10.1186/s40478-021-01234-2

Internet

https://doi.org/10.1186/s40478-021-01234-2

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