Table 2.
Clinical and neuroimaging findings in the 8 EOFAD patients with PSEN1 gene variants.
| Patient No. | Exon | Nucleotide change | Amino acid change | Sex | Onset age/ duration of illness (years) | Family history | Main clinical features | MMSE | MRI | FDG-PET | PiB-PET |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 5 | c.358 G > A | p.Glu120Lys | F | 34/5 | + | memory impairment, visuospatial dysfunction, anomia, depression, apathy, abulia, delusion, cerebellar ataxia, parkinsonism, dystonia | 16/30 | mild diffuse cortical atrophy, left hippocampal atrophy | hypometabolism in the bilateral temporal lobes | PiB(+) 1.84 |
| 2 | 6 | c.509 G > T | p.Ser170Phe | M | 28/1 | + | memory impairment, visuospatial dysfunction, anomia, acalculia, myoclonus | 18/30 | diffuse and biparietal lobe atrophy | hypometabolism in the bilateral parietal and temporal lobes | none |
| 3 | 5 | c.356 C > T | p.Thr119Ile | F | 50/2 | + | memory impairment, visuospatial dysfunction, depression, apathy | 21/30 | mild bilateral hippocampal atrophy | mild hypometabolism in the bilateral temporal lobes | none |
| 4 | 5 | c.476 A > G | p.Tyr159Cys | F | 59/5 | + | memory impairment, visuospatial dysfunction, aphasia, anxiety, parkinsonism | 0/30 | diffuse. biparietal and hippocampal atrophy | severe hypometabolism in bilateral fronto-parieto-temporal cortex | none |
| 5 | 8 | c.845 T > C | p.Leu282Pro | F | 40/3 | + | memory impairment, visuospatial dysfunction, abulia, apathy, depression | 16/30 | mild diffuse cortical atrophy | hypometabolism in the bilateral parietal and temporal cortex | none |
| 6 | 8 | c.853 G > T | p.Ala285Ser | F | 54/5 | + | memory impairment, acalculia, delusion, depression, anxiety | 24/30 | bilateral hippocampal atrophy | hypometabolism in the bilateral temporal cortex | PiB(+) 1.93 |
| 7 | 11 | c.1165 T > C | p.Tyr389His | F | 39/4 | + | memory impairment, apraxia, acalculia, anomia, parkinsonism | 26/30 | mild diffuse cortical atrophy | hypometabolism in the bilateral parietal and temporal cortex | PiB(+) |
| 8 | 11 | c.1166 A > C | p.Tyr389Ser | M | 50/3 | + | memory impairment, visuospatial dysfunction, aphasia, acalculia, apraxia, simultagnosia, parkinsonism, apathy, abulia | 7/30 | mild diffuse cortical atrophy | hypometabolism in the bilateral parieto-temporal cortex | PiB(+) |
EOAD = Early onset Alzheimer’s disease; NA = not applicable; MMSE = Mini-mental State Examination.