Table 1 Clinical findings in the published at codon 165 of PSEN1
From: A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease
Higuchi et al., 2000 [39] | Syama et al., 2018 [37] | This study | ||
|---|---|---|---|---|
Country | France | Japan | India | Korea |
Mutation | Trp165Cys | Trp165Gly | Trp165Cys | Trp165Cys |
Codon change | TGG to TGC | TGG to GGG | TGG to TGT | TGG to TGT |
Familiar | Yes 3 generation | Yes | Yes | Yes Two generations |
Age at onset (year) | 37–47 | 34–38 | 45 | 50 |
ApoE genotype | ε3/ε3 | NA | NA | ε2/ε3 |
Clinical signs and symptoms | EOAD | EOAD | NA | Memory decline, followed by difficulty in finding ways and had a strong family history of dementia |
Brain Imaging (MRI, CT) | NA | NA | MRI: indicated diffuse cerebral and cerebellar atrophy in one case. | 18F-Florbetaben-PET (FBB-PET): increased amyloid deposition in bilateral frontal, parietal, temporal lobe and precuneus |
Functional data | ↑Aβ42 and ↓Aβ40 in vitro; elevated Aβ42/Aβ40 ratio | No functional data | ↑Aβ42 and ↓Aβ40 production in vitro; elevated Aβ42/Aβ40 ratio | ↑Aβ42 and ↓Aβ40 production in vitro; elevated Aβ42/Aβ40 ratio. |