Very Early-Onset Alzheimer's Disease in the Third Decade of Life with de novo PSEN1 Mutations

Mutations in Presenilin-1 (PSEN1) have been found to be associated with very early onset Alzheimer's disease (VEOAD). Here, we reported two patients with VEOAD caused by de novo PSEN1 mutations. A 33-year-old man with a de novo p.F177S mutation in PSEN1 presented with progressive decline in memory and daily function. A 37-year-old woman with a de novo PSEN1 p.L381V mutation presented with onset memory impairment, developed cerebellar syndrome, rigidity, and spastic paraparesis. The Amyloid/Tau/Neurodegeneration (ATN) biomarker profiles of both patients were A+ T+(N)+. Our finding increases the genetic knowledge of VEOAD and extends the ethnic distribution of PSEN1 mutations.

Automated summary

This article reports two cases of very early onset Alzheimer's disease (VEOAD) caused by de novo PSEN1 mutations. The findings increase the understanding of VEOAD genetics and expand the ethnic distribution of PSEN1 mutations.