Table 1.
Summary of clinical information for individuals with LOAD and PSEN1 A79V mutation carriers with ADAD
| Family members with dementia
|
LOAD | p value, carriers versus LOAD | ||
|---|---|---|---|---|
| PSEN1 A79V carriers | Noncarriers | |||
|
| ||||
| Demographic details | N=7 | N=3 | N=1115 | |
|
| ||||
| Median age at symptomatic onset (range), years | 75.0 (63–77) | 76.0 | 74.0 (60–101) | .29 |
|
| ||||
| Female gender (%) | 4 (57) | 2 (67) | 529 (47) | .71 |
|
| ||||
| Median education (range), years | 12 (8–15) | 12 (8–15) | 16 (2–24) | .01 |
|
| ||||
| Dementia features | ||||
|
| ||||
| Mode of onset of dementia: insidious onset, gradual progression (%) | 7 (100) | 3 (100) | 1105 (99) | >.99 |
|
| ||||
| Presenting symptom of dementia, memory loss (%) | 7 (100) | 3 (100) | 958/1063 (90) | >.99 |
|
| ||||
| Median duration of dementia (range), years | 9.9+ (2.3–12.8) | 5.1+ (<10 years) | 9.0 (1–27.0) | .73 |
|
| ||||
| Rate of dementia progression | ||||
|
| ||||
| Change in CDR sum of box scores/year (range) | 1.2 (0.1–3.3) N=5 |
1.64 (1.04–1.68) N=3 |
1.9 (−3.5–11.9) N=837 |
.42 |
|
| ||||
| Associated symptoms, signs and comorbidities early in the disease course (CDR≤1) | ||||
|
| ||||
| Depressive symptoms (low mood; %) | 3 (43) | 3 (100) | 309/706 (44) | >.99 |
|
| ||||
| Psychiatric symptoms/signs | 5 (71) | 1 (33) | 163/706 (24) | .01 |
| Hallucinations or delusions, % | 4/7 (57) | 1 (33) | 137/706 (19) | .03 |
| Severe agitation, % | 1/7 (14) | 0 (0) | 42/706 (6) | .35 |
|
| ||||
| Language deficit (%) | 3 (43) | 0 | 454/706 (58) | .26 |
|
| ||||
| Visuospatial impairment (%) | 4 (57) | 0 | 413/706 (64) | >.99 |
|
| ||||
| Parkinsonism (%) | 2 (29) | 1 (33) | 64/706 (9) | .13 |
|
| ||||
| Seizures (active; %) | 0 (0) | 0 | 4/706 (1) | >.99 |
|
| ||||
| APOE allele status | ||||
|
| ||||
| APOE ε4 carrier (%) | 5/7 (71) | 2 (67) | 568 (51) | .45 |
| - Unknown | 1/7 (14) | 0 | 167 (15) | >.99 |
+
Calculation limited to participants in whom complete duration was known