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. 2022;85(1):65-71.
doi: 10.3233/JAD-215167.

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

Ke-Liang Chen  1 , Pei-Xi Li  1 , Yi-Min Sun  1 , Shu-Fen Chen  1 , Chuan-Tao Zuo  2 , Jian Wang  1 , Qiang Dong  1 , Mei Cui  1 , Jin-Tai Yu  1
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Very Early-Onset Alzheimer's Disease in the Third Decade of Life with de novo PSEN1 Mutations

Ke-Liang Chen et al. J Alzheimers Dis. 2022.

Abstract

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.

Keywords: Mutation; PSEN1; sporadic cases; very early onset Alzheimer’s disease.

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