DOI: 10.1177/25424823261464623 ISSN: 2542-4823

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

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