Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1

Muñoz, EstebanJodar, MeritxellGuerrero, JairoCompta, YaroslauPerissinotti, AndrésÁlvarez Mora, María IsabelFalgàs Martínez, NeusRodríguez Revenga, LaiaSánchez del Valle Díaz, Raquel2024-11-052024-11-052022-102330-1619https://hdl.handle.net/2445/216242Hereditary spastic paraplegia (HSP) is a rare and genetically heterogeneous disease.1 Presenilin-1 (PSEN1) mutations are responsible for both early-onset familial Alzheimer’s disease (AD)2 and HSP.3 We present a case of spastic paraplegia (SP) and cognitive impairment due to a novel de novo pathogenic variant in PSEN1.3 p.application/pdfengcc-by-nc-nd (c) Muñoz, Esteban et al., 2022http://creativecommons.org/licenses/by-nc-nd/4.0Malaltia d'AlzheimerParaplegiaMalalties hereditàriesMutació (Biologia)GenèticaAlzheimer's diseaseParaplegiaGenetic diseasesMutation (Biology)GeneticsSpastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1info:eu-repo/semantics/article7373552024-11-05info:eu-repo/semantics/openAccess36699002