An unexpected discovery of a novel potentially pathogenic APP gene variant: a case report of slowly progressive Alzheimer's disease with prominent cerebral amyloid angiopathy

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F26%3A10001460" target="_blank" >RIV/00064190:_____/26:10001460 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.3389/fnins.2025.1703718" target="_blank" >https://doi.org/10.3389/fnins.2025.1703718</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fnins.2025.1703718" target="_blank" >10.3389/fnins.2025.1703718</a>

Result language
angličtina
Original language name
An unexpected discovery of a novel potentially pathogenic APP gene variant: a case report of slowly progressive Alzheimer's disease with prominent cerebral amyloid angiopathy
Original language description
Amyloid precursor protein (APP) plays an essential role in brain function and development. Variants in the APP gene are associated with both familial Alzheimer's disease and cerebral amyloid angiopathy. We report a case of early onset, slowly progressive mixed dementia with a newly identified APP variant. The patient developed mild cognitive impairment at age 51, followed by neuropsychiatric symptoms, seizures, and progressive white matter changes. Despite a fluctuating clinical course, significant deterioration occurred later, culminating in death at age 77. Genetic testing revealed an APP c.2086G > A (p.Gly696Ser) variant, currently classified as a variant of uncertain significance (VUS). Postmortem examination showed definite AD neuropathologic changes, with fully blown amyloid pathology including amyloid deposits in plaques as well as in severe generalized cerebral angiopathy with concomitant advanced FTLD-tau pathology. In silico analysis of the variant's impact was performed, and the inconclusive results are discussed later.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)

Project
<a href="/en/project/NU23-04-00173" target="_blank" >NU23-04-00173: Utilization of RT-QuIC assay for improvement of diagnostics of neurodegenerative diseases: Prospective and retrospective studies</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2026
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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