Diagnostic challenges in early-onset Alzheimer's disease: Case report of a patient with PSEN1 p.Asn135Ser mutation

Journal of Alzheimer's Disease Reports · Published 2026-06-01 · DOI 10.1177/25424823261464623

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Authors (6)

Carolina Gonçalves, Gonçalo Cabral, Carolina Almeida, Filipe Azevedo, Diogo Rodrigues, Luísa Alves

Abstract

We report the case of a 46-year-old woman who presented with progressing, early-onset cognitive decline associated with atypical features due to a PSEN1 mutation. This case extends the known spectrum of clinical, radiological and pathological findings associated with this mutation.

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Publication details

Year

2026

Citation

Gonçalves, C., Cabral, G., Almeida, C., et al. (2026). Diagnostic challenges in early-onset Alzheimer's disease: Case report of a patient with PSEN1 p.Asn135Ser mutation. Journal of Alzheimer's Disease Reports. https://doi.org/10.1177/25424823261464623

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