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

Author:

Kim Hang-Rai123,Jang Ja Hyun4,Ham Honggi2356,Choo Seung Ho2,Park Jeongho2,Kang Sung Hoon237,Hwangbo Song23,Jang Hyemin23,Na Duk L.2389,Seo Sang Won2368,Baek Ji Hyun10,Kim Hee Jin2358

Affiliation:

1. Department of Neurology, Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang, Republic of Korea

2. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea

3. Alzheimer’s Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea

4. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea

5. Department of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea

6. Department of Intelligent Precision Healthcare Convergence, Sungkyunkwan University, Suwon, Republic of Korea

7. Department of Neurology, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea

8. Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea

9. Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Republic of Korea

10. Department of Psychiatry, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea

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.

Publisher

IOS Press

Subject

Psychiatry and Mental health,Geriatrics and Gerontology,Clinical Psychology,General Medicine,General Neuroscience

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Psychosis in Neurodegenerative Dementias: A Systematic Comparative Review;Journal of Alzheimer's Disease;2024-04-30

2. Presenilin Gene Mutation-associated Psychosis;Alzheimer Disease & Associated Disorders;2024-01-17

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