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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/216242
Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
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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.
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MUÑOZ, Esteban, et al. Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1. Movement Disorders Clinical Practice. 2022. Vol. 10, num. 1, pags. 148-150. ISSN 2330-1619. [consulted: 8 of August of 2026]. Available at: https://hdl.handle.net/2445/216242