Table 1:
Clinical Characterization
| Clinical Characterization | |||||||
|---|---|---|---|---|---|---|---|
| ID | Sex | Age of Onset | Age at Death | Duration (Years) | Clinical Features | SORL1 genotype | APOE genotype |
| I-1 | M | 83 | 89 | 6 | Dx “Severe Dementia” Parkinsonism Aggressive Behavior |
N/A | N/A |
| I-2 | F | 78 | 91 | 13 | Dx Alzheimer Dementia; Age 85 MMSE 23; Age 86 MMSE 15; Age 87 MMSE 11 |
WT | 3/3 |
| II-1 | F | 73 | 75 | 2.5 | Dx Alzheimer Dementia; Rapid Progression; Age 74 MOCA 11/30 |
p.R953C | 3/3 |
| II-2 | F | 53 | 74 | 21 | Dx Alzheimer Dementia; Early Memory Loss in 50’s; Age 59 WMS “Profound Impairment”; Age 63 MMSE 26 |
p.R953C | 3/3 |
| II-3 | F | 74 | 77 | 3 | Dx Alzheimer Dementia; Memory loss, aggression, hallucinations, delusions |
p. R953C | 3/3 |
| II-4 | M | 57 | 68 | 11 | Dx Alzheimer Dementia; Age 59 MMSE 26; Twin of II-5 |
p.R953C | 3/3 |
| II-5 | M | 51 | 61 | 10 | Dx Alzheimer Dementia; Aphasia; Apraxia; Age 55 MMSE 9; Twin of II-4 |
p.R953C | 3/3 |
| III-6 | F | NA | NA | NA | Dx Spastic paraplegia; Age 45 and Age 46; NP testng - executve dysfunc/on impaired processing and attention | p.R953C | 3/3 |
NP =Neuropsychological Testing