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

Kim, Hang-Rai; Jang, Ja Hyun; Ham, Honggi; Choo, Seung Ho; Park, Jeongho; Kang, Sung Hoon; Hwangbo, Song; Jang, Hyemin; Na, Duk L.; Seo, Sang Won; Baek, Ji Hyun; Kim, Hee Jin

doi:10.3233/JAD-210650

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

Kim, Hang-Rai;
Jang, Ja Hyun;
Ham, Honggi;
Choo, Seung Ho;
Park, Jeongho;
외 7명

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초록

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.

키워드

Alzheimer's disease; positron emission tomography; PSEN1 mutation; psychosis; DE-NOVO MUTATION; NEUROPSYCHIATRIC SYMPTOMS; COGNITIVE IMPAIRMENT; AMYLOID DEPOSITION; TAU; NEUROPATHOLOGY; HETEROGENEITY; PHENOTYPE; FREQUENCY; PSYCHOSIS

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

저자: Kim, Hang-Rai; Jang, Ja Hyun; Ham, Honggi; Choo, Seung Ho; Park, Jeongho; Kang, Sung Hoon; Hwangbo, Song; Jang, Hyemin; Na, Duk L.; Seo, Sang Won; Baek, Ji Hyun; Kim, Hee Jin

DOI: 10.3233/JAD-210650

발행일: 2021

유형: Article

저널명: Journal of Alzheimer's Disease

권: 83

호: 3

페이지: 1025 ~ 1031