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

Article type: Short Communication

Authors: Kim, Hang-Rai^{a; b; c} | Jang, Ja Hyun^d | Ham, Honggi^{b; c; e; f} | Choo, Seung Ho^b | Park, Jeongho^b | Kang, Sung Hoon^{b; c; g} | Hwangbo, Song^{b; c} | Jang, Hyemin^{b; c} | Na, Duk L.^{b; c; h; i} | Seo, Sang Won^{b; c; f; h} | Baek, Ji Hyun^j | Kim, Hee Jin^{b; c; e; h; *}

Affiliations: [a] Department of Neurology, Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang, Republic of Korea | [b] Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea | [c] Alzheimer’s Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea | [d] Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea | [e] Department of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea | [f] Department of Intelligent Precision Healthcare Convergence, Sungkyunkwan University, Suwon, Republic of Korea | [g] Department of Neurology, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea | [h] Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea | [i] Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Republic of Korea | [j] Department of Psychiatry, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea

Correspondence: [*] Correspondence to: Hee Jin Kim, MD, PhD, Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Republic of Korea. Tel.: +82 2 3410 6147; Fax: +82 2 3410 0052; E-mail: [email protected].

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-β 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.

Keywords: Alzheimer’s disease, positron emission tomography, PSEN1 mutation, psychosis

DOI: 10.3233/JAD-210650

Journal: Journal of Alzheimer's Disease, vol. 83, no. 3, pp. 1025-1031, 2021