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 pathogenic variant in PSEN1.