Skip to main content
. 2016 Oct 12;11:1433–1440. doi: 10.2147/CIA.S111821

Table 1.

Comparisons of dominant features of patients with PSEN1 L226F

Case Zekanowski et al (2006)25 Gomez-Tortosa et al (2010)27 Korean patient
Age of onset 33 years 33 years 37 years
Family history Yes; mother, clinical YOD Yes; father, clinical YOD None
Symptoms Early behavioral, frontal signs, subsequent severe recent memory loss, mild parkinsonism, progress to mutism Early depression, dysarthria, nonfluent aphasia, cognitive declines, subsequent Parkinsonism Early paranoid ideation and anxiety, cognitive decline, nonfluent aphasia progress to mutism, late Parkinsonism
Neuroimaging characteristics Frontal atrophy on CT; severe hypoperfusion in frontal areas on SPECT Diffuse cortical atrophy on MRI Diffuse cortical atrophy on MRI; marked cortical hypometabolism especially in bilateral parietal regions on FDG-PET
Age of death 38 years 42 years 44 years
Autopsy AD pathology AD pathology Not done

Abbreviations: AD, Alzheimer’s disease; CT, computerized tomography; FDG-PET, fluorodeoxyglucose glucose positron emission tomography; MRI, magnetic resonance imaging; YOD, young-onset dementia.