Large-scale APP duplication in early-onset Alzheimer's disease without cerebral amyloid angiopathy: A case report

Sho Shimohama; Shumpei Azami; Munenori Oyama; Tsubasa Takizawa; Masahito Kubota; Hisato Suzuki; Mamiko Yamada; Jin Nakahara; Daisuke Ito

doi:10.1177/25424823251412896

Large-scale APP duplication in early-onset Alzheimer's disease without cerebral amyloid angiopathy: A case report

Sho Shimohama
, Shumpei Azami
, Munenori Oyama
, Tsubasa Takizawa
, Masahito Kubota
, Hisato Suzuki
, Mamiko Yamada
, Jin Nakahara
, Daisuke Ito

内科学(神経)

研究成果: Article › 査読

抄録

We present the case of a patient who began experiencing cognitive decline in her 30 s and was diagnosed with duplication of the amyloid precursor protein (Dup-APP) associated early-onset Alzheimer's disease (EOAD). The diagnosis was supported by the presence of amyloid and tau biomarkers. The clinical course, neuroimaging findings, and genetic testing excluded other diseases known to cause early-onset cognitive impairment. Our case exhibited a markedly large duplication of 19 Mb and did not present with cerebral amyloid angiopathy. Our findings suggest a potential association between the size of the duplication and the clinical phenotype.

本文言語	English
ジャーナル	Journal of Alzheimer's Disease Reports
巻	10
DOI	https://doi.org/10.1177/25424823251412896
出版ステータス	Published - 2026 1月 1

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ASJC Scopus subject areas

神経科学一般
臨床心理学
老年医学
精神医学および精神衛生

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10.1177/25424823251412896

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abstract = "We present the case of a patient who began experiencing cognitive decline in her 30 s and was diagnosed with duplication of the amyloid precursor protein (Dup-APP) associated early-onset Alzheimer's disease (EOAD). The diagnosis was supported by the presence of amyloid and tau biomarkers. The clinical course, neuroimaging findings, and genetic testing excluded other diseases known to cause early-onset cognitive impairment. Our case exhibited a markedly large duplication of 19 Mb and did not present with cerebral amyloid angiopathy. Our findings suggest a potential association between the size of the duplication and the clinical phenotype.",

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AU - Oyama, Munenori

AU - Takizawa, Tsubasa

AU - Kubota, Masahito

AU - Suzuki, Hisato

AU - Yamada, Mamiko

AU - Nakahara, Jin

AU - Ito, Daisuke

N1 - Publisher Copyright: © The Author(s) 2026. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).

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N2 - We present the case of a patient who began experiencing cognitive decline in her 30 s and was diagnosed with duplication of the amyloid precursor protein (Dup-APP) associated early-onset Alzheimer's disease (EOAD). The diagnosis was supported by the presence of amyloid and tau biomarkers. The clinical course, neuroimaging findings, and genetic testing excluded other diseases known to cause early-onset cognitive impairment. Our case exhibited a markedly large duplication of 19 Mb and did not present with cerebral amyloid angiopathy. Our findings suggest a potential association between the size of the duplication and the clinical phenotype.

AB - We present the case of a patient who began experiencing cognitive decline in her 30 s and was diagnosed with duplication of the amyloid precursor protein (Dup-APP) associated early-onset Alzheimer's disease (EOAD). The diagnosis was supported by the presence of amyloid and tau biomarkers. The clinical course, neuroimaging findings, and genetic testing excluded other diseases known to cause early-onset cognitive impairment. Our case exhibited a markedly large duplication of 19 Mb and did not present with cerebral amyloid angiopathy. Our findings suggest a potential association between the size of the duplication and the clinical phenotype.

KW - Alzheimer's disease

KW - Down syndrome

KW - amyloid β-protein precursor

KW - biomarkers

KW - dementia

KW - tau

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Large-scale APP duplication in early-onset Alzheimer's disease without cerebral amyloid angiopathy: A case report

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UN SDG

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