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

Hereditary 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 pathogen...

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Detalles Bibliográficos
Autores: Muñoz, Esteban, Jodar, Meritxell, Guerrero, Jairo, Compta, Yaroslau, Perissinotti, Andrés, Álvarez Mora, María Isabel, Falgàs Martínez, Neus, Rodríguez Revenga, Laia, Sánchez del Valle Díaz, Raquel
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/216242
Acceso en línea:https://hdl.handle.net/2445/216242
Access Level:acceso abierto
Palabra clave:Malaltia d'Alzheimer
Paraplegia
Malalties hereditàries
Mutació (Biologia)
Genètica
Alzheimer's disease
Genetic diseases
Mutation (Biology)
Genetics
Descripción
Sumario:Hereditary 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.

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