Characterization of spastic paraplegia in a family with a novel PSEN1 mutation

Spastic paraparesis has been described to occur in 13.7% of PSEN1 mutations and can be the presenting feature in 7.5%. In this paper, we describe a family with a particularly young onset of spastic paraparesis due to a novel mutation in PSEN1 (F388S). Three affected brothers underwent comprehensive...

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Detalles Bibliográficos
Autores principales: Ringman, John M, Dorrani, Naghmeh, Fernández, Sara Gutiérrez, Signer, Rebecca, Martinez-Agosto, Julian, Lee, Hane, Douine, Emilie D, Qiao, Yuchuan, Shi, Yonggang, D’Orazio, Lina, Pawar, Sanjay, Robbie, Leah, Kashani, Amir H, Singer, Maxwell, Byers, Joshua T, Magaki, Shino, Guzman, Sam, Sagare, Abhay, Zlokovic, Berislav, Cederbaum, Stephen, Nelson, Stanley, Sheikh-Bahaei, Nasim, Chui, Helena C, Chávez-Gutiérrez, Lucía, Vinters, Harry V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991506/
https://www.ncbi.nlm.nih.gov/pubmed/36895955
http://dx.doi.org/10.1093/braincomms/fcad030

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