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

# metadata.dc.description.abstract[].value
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.

# metadata.dc.relation.ispartof[].value
Movement Disorders Clinical Practice, 2022, vol. 10, num.1, p. 148-150

# metadata.dc.rights[].value
cc-by-nc-nd (c) Muñoz, Esteban et al., 2022

# metadata.dc.source[].value
Articles publicats en revistes (Medicina)

# metadata.dc.title[].value
Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1