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A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P)

Authors
Kim, Hang-RaiJang, Ja HyunHam, HonggiChoo, Seung HoPark, JeonghoKang, Sung HoonHwangbo, SongJang, HyeminNa, Duk L.Seo, Sang WonBaek, Ji HyunKim, Hee Jin
Issue Date
2021
Publisher
IOS PRESS
Keywords
Alzheimer' s disease; positron emission tomography; PSEN1 mutation; psychosis
Citation
JOURNAL OF ALZHEIMERS DISEASE, v.83, no.3, pp.1025 - 1031
Indexed
SCIE
SCOPUS
Journal Title
JOURNAL OF ALZHEIMERS DISEASE
Volume
83
Number
3
Start Page
1025
End Page
1031
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/138653
DOI
10.3233/JAD-210650
ISSN
1387-2877
Abstract
Atypical psychological symptoms frequently occur in early-onset Alzheimer's disease (EOAD), which makes it difficult to differentiate it from other psychiatric disorders. We report the case of a 28-year-old woman with EOAD, carrying a presenilin-1 mutation (S170P), who was initially misdiagnosed with schizophrenia because of prominent psychiatric symptoms in the first 1-2 years of the disease. Amyloid-beta positron emission tomography (PET) showed remarkably high tracer uptake in the striatum and thalamus. Tau PET showed widespread cortical uptake and relatively low uptake in the subcortical and medial temporal regions. Our case advocates for considering EOAD diagnosis for young patients with psychiatric and atypical cognitive symptoms.
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