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https://hdl.handle.net/2445/216242| Title: | Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1 |
| Author: | 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 |
| Keywords: | Malaltia d'Alzheimer Paraplegia Malalties hereditàries Mutació (Biologia) Genètica Alzheimer's disease Paraplegia Genetic diseases Mutation (Biology) Genetics |
| Issue Date: | Oct-2022 |
| Publisher: | John Wiley & Sons |
| Abstract: | 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. |
| Note: | Reproducció del document publicat a: https://doi.org/10.1002/mdc3.13588 |
| It is part of: | Movement Disorders Clinical Practice, 2022, vol. 10, num.1, p. 148-150 |
| URI: | https://hdl.handle.net/2445/216242 |
| Related resource: | https://doi.org/10.1002/mdc3.13588 |
| ISSN: | 2330-1619 |
| Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| 823112.pdf | 2.93 MB | Adobe PDF | View/Open |
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