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| Home > In process > Case 5: Double Plot Twist in a Patient with a Suspected Diagnosis of Alzheimer’s Disease |
| Home > In process > Case 5: Double Plot Twist in a Patient with a Suspected Diagnosis of Alzheimer’s Disease |
| Contribution to a book | DZNE-2026-00536 |
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2025
Springer Nature Switzerland
Cham
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Please use a persistent id in citations: doi:10.1007/978-3-032-00522-9_5
Abstract: This case study reports a diagnostically complex scenario involving a 77-year-old female who initially presented with mild memory complaints. Over the course of one year, she exhibited significant cognitive decline, with MMSE scores dropping from 27/30 to 20/30. Despite the initial clinical suspicion of Alzheimer’s disease (AD), cerebrospinal fluid (CSF) biomarkers including Aβ42/40 and p-tau181 remained within normal ranges. However, β-amyloid PET imaging showed moderate cortical amyloid deposition, while tau-PET did not reveal AD-typical tau accumulation in regions with strong neurodegeneration. This discordance suggested the presence of non-AD pathology. Further diagnostic workup with DaT-SPECT indicated bilateral presynaptic dopaminergic deficits, and CSF α-synuclein seed amplification assays confirmed the presence of Lewy-type α-synucleinopathy. This case emphasizes the significance of molecular diagnostic tools—especially PET imaging and biomarker assays—in differentiating overlapping neurodegenerative syndromes. It also raises critical implications for therapeutic decisions, as relying solely on amyloid positivity could mislead treatment plans. The case underlines the importance of comprehensive multimodal diagnostics in achieving precise, personalized dementia care.
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