Case of early-onset Alzheimer’s disease with atypical manifestation

Abstract

Short-term memory decline is the typical clinical manifestation of Alzheimer’s disease (AD). However, early-onset AD usually has atypical symptoms and may get misdiagnosed. In the present case study, we reported a patient who experienced symptoms of memory loss with progressive non-fluent aphasia accompanied by gradual social withdrawal. He did not meet the diagnostic criteria of AD based on the clinical manifestation and brain MRI. However, his cerebrospinal fluid examination showed a decreased level of beta-amyloid 42, and increased total tau and phosphorylated tau. Massive amyloid β-protein deposition by 11C-Pittsburgh positron emission tomography confirmed the diagnosis of frontal variant AD. This case indicated that early-onset AD may have progressive non-fluent aphasia as the core manifestation. The combination of individual and precision diagnosis would be beneficial for similar cases.

Research Criteria for the Behavioral Variant of Alzheimer Disease

“…The systematic literature search yielded 1257 records, of which 116 studies were assessed at full-text level for eligibility and 83 studies met inclusion criteria (eFigure 5 in the Supplement for flowchart). Confirmation of AD pathology was present in 91.1% of cases with bvAD based on autopsy data (36 studies; n = 334), genetic data (9 studies; n = 21), or biomarker data (31 studies; n = 262), while no information was available in 9.9% of cases (11 studies including 68 cases of bvAD). Thirteen studies were eligible for meta-analysis.…”