Table 1.
Phenotypes of mutations located in the third TM domain of PSEN2
| Mutation | Age of onset | Family history | Neuroimaging data | Functional data | Clinical phenotype | Reference |
|---|---|---|---|---|---|---|
| H169N | 68 | Familial | PIB-PET: bilateral frontal lobe, lateral temporal lobe, parietal lobe, insular lobe, cingulate cortex, precuneus, and caudate nucleus hypometabolism PIB-PET: bilateral frontal, lateral temporal, and parietal lobes, cingulate cortex, and precuneus amyloid deposits |
Not available | LOAD | 9 |
| H169N | 62 | De novo | PIB-PET: left temporal lobe, cingulate cortex, thalamus, and caudate nucleus hypometabolism | Not available | FTD, progressive nonfluent aphasia | 9 |
| H169N | 56 | De novo | MRI: bilateral temporal atrophy (L>R) FDG-PET: bilateral temporal (L>R), bilateral frontal lobe hypometabolism |
Not available | EOAD | This study |
| M174V | 54 | De novo | MRI: showed features included atrophy in both parietal regions (R>L) SPECT: revealed hypoperfusion in temporoparietal regions (R>L) |
Not available | EOAD | 20 |
| S175C | 63 | Familial (an Italian Pedigree patients) | MRI: showed focal atrophy in the medial temporal lobe SPECT: showed bilateral hypoperfusion in temporoparietal regions |
Not available | EOAD | 23 |
Abbreviations: TM, transmembrane; EOAD, early-onset Alzheimer’s disease; FDG-PET, 18 F-fludeoxyglucose positron emission tomography; FTD, frontotemporal dementia; LOAD, late-onset Alzheimer’s disease; MRI, magnetic resonance imaging; PIB-PET, Pittsburg compound B-positron emission tomography; PSEN, presenilin; N, neutral; SPECT, single-photon emission computed tomography.