Table 2.
The EOAD subjects with identified genetic mutations
| Mutation | Pathogenic | Sex/AO/APOE | FH | Presenting symptoms | MMSE/CDR at imaging | Imaging | CSF |
|---|---|---|---|---|---|---|---|
|
PSEN1 T116I |
Causative (La Bella et al17) | Female/38/ε2ε3 | Yes | Memory loss | 23/0.5 | MRI: atrophy in med T FDG-PET: ↓ met in bi T & P |
tTau/Aβ42, 4.53; pTau181/Aβ42, 0.43 |
|
PSEN1 L226F |
Causative (Zelanowski et al;16 Bagyinszky et al22) | Female/37/ε3ε3 | No | Memory loss | 21/1 | MRI: atrophy in med T & P FDG-PET: ↓ met in bi T & P |
ND |
|
PSEN2 R62C |
Unclear (Sleegers et al;21 Ertekin-Taner et al;20 Brouwers et al19) | Male/49/ε3ε3 | No | Obsessive compulsive behavior | 24/1 | MRI: diffuse atrophy SPECT: ↓ perfusion in F & T |
ND |
|
PSEN2 V214L |
Probably involved in disease (Youn et al18) | Female/54/ε3ε3 | No | Memory loss, anomia | 15/1 | MRI: atrophy in med T FDG-PET: ND |
tTau/Aβ42, 1.66; pTau181/Aβ42, 0.20 |
Abbreviations: EOAD, early-onset Alzheimer’s disease; AO, age at onset; bi, bilateral; CDR, clinical dementia rating; F, frontal; FDG-PET, fluorodeoxy glucose positron emission tomography; FH, family history; med, medial; met, metabolism; MMSE, mini-mental state examination; ND, not done; P, parietal; SPECT, single-photon emission computed tomography; T, temporal; MRI, magnetic resonance imaging; CSF, cerebrospinal fluid.