Table 1.
Demographics and clinical data
| Demographics | HC (n = 39) | MAPT carriers (n = 15) | GRN carriers (n = 31) | p value* | MAPT converters (n = 5) | GRN converters (n = 3) | Non-converters (n = 38) | p value** | |
|---|---|---|---|---|---|---|---|---|---|
| Age at study entry, years | 49.1 ± 12.2 | 41.9 ± 10.0 | 52.1 ± 8.2 | 0.012 a | 45.3 ± 8.5 | 54.9 ± 9.0 | 48.8 ± 10.3 | 0.704 | |
| Sex, female (%) | 20 (56%) | 7 (47%) | 20 (65%) | 0.506 | 1 (20%) | 3 (100%) | 23 (60.5%) | 0.154 | |
| Education (Verhage)f | 5.2 ± 1.0 | 5.1 ± 1.6 | 5.7 ± 0.9 | 0.102 | 6.0 ± 0.7 | 5.7 ± 0.6 | 5.4 ± 1.3 | 0.409 | |
| Onset age family, years | 59.0 ± 5.8 | 51.3 ± 6.7 | 61.0 ± 2.4 | < 0.001a,b | 48.0 ± 4.7 | 59.7 ± 0.0 | 58.8 ± 6.1 | 0.002 c,d | |
| Estimated years to onset, years | − 10.2 ± 11.2 | − 7.7 ± 9.6 | − 9.4 ± 7.9 | 0.690 | − 2.7 ± 4.0 | − 4.8 ± 9.0 | − 10.0 ± 8.5 | 0.335 | |
| Clinical data | Years to onset | HC (n = 39) | MAPT carriers (n = 15) | GRN carriers (n = 31) | p value* | MAPT converters (n = 5) | GRN converters (n = 3) | Non-converters (n = 38) | p value** |
|---|---|---|---|---|---|---|---|---|---|
| MMSE | 4 | 29.1 ± 1.3 | 29.6 ± 0.5 | 29.1 ± 1.6 | 0.451 | 29.5 ± 0.6 | 29.0 ± 1.4 | 29.2 ± 1.4 | 0.924 |
| 2 | 29.2 ± 1.3 | 28.7 ± 2.2 | 28.9 ± 1.6 | 0.513 | 29.8 ± 0.4 | 28.0 ± 1.0 | 27.7 ± 1.5 | 0.271 | |
| 0 | 29.2 ± 1.0 | 28.4 ± 1.5 | 29.2 ± 1.4 | 0.099 | 27.2 ± 1.6 | 27.7 ± 1.5 | 29.3 ± 1.2 | 0.001 c,d | |
| FABg | 4 | – | – | – | – | – | – | – | – |
| 2 | 17.4 ± 0.9 | 17.4 ± 0.8 | 17.5 ± 0.9 | 0.883 | 17.3 ± 1.0 | 17.5 ± 0.7 | 17.5 ± 0.9 | 0.929 | |
| 0 | 16.7 ± 1.7 | 16.5 ± 1.6 | 17.0 ± 1.1 | 0.639 | 15.4 ± 1.5 | 16.3 ± 1.5 | 17.1 ± 1.1 | 0.120 | |
| BDI | 4 | 4.1 ± 4.5 | 4.0 ± 6.3 | 3.2 ± 3.9 | 0.693 | 1.3 ± 1.0 | 2.0 ± 2.8 | 3.7 ± 5.0 | 0.645 |
| 2 | 3.7 ± 3.9 | 4.5 ± 5.0 | 3.2 ± 4.0 | 0.638 | 5.0 ± 4.7 | 2.7 ± 3.8 | 3.5 ± 4.4 | 0.866 | |
| 0 | 3.5 ± 4.3 | 7.6 ± 9.5 | 3.0 ± 6.7 | 0.108 | 11.6 ± 13.0 | 6.3 ± 5.1 | 3.1 ± 6.5 | 0.042 c,d | |
| NPI | 4 | 0.1 ± 0.5 | 4.6 ± 11.2 | 1.4 ± 3.4 | 0.180 | 0.0 ± 0.0 | – | 3.0 ± 7.5 | 0.006 c–e |
| 2 | 0.6 ± 1.2 | 6.4 ± 20.7 | 0.3 ± 0.7 | 0.095 | 0.2 ± 0.4 | 0.0 ± 0.0 | 2.9 ± 13.3 | 0.767 | |
| 0 | 0.8 ± 1.5 | 12.3 ± 18.7 | 2.1 ± 6.6 | 0.001 a,b | 15.6 ± 16.3 | 10.7 ± 15.9 | 3.4 ± 11.4 | 0.009 d |
Values indicate: mean ± standard deviation. Significant comparisons are displayed in bold
GRN progranulin, HC healthy control, MMSE Mini-Mental State Examination, FAB frontal assessment battery, BDI Beck’s depression inventory, NPI neuropsychiatric inventory
*p value represents result of overall ANOVA between MAPT mutation carriers, GRN mutation carriers and healthy controls
**p value represents result of overall ANOVA between MAPT converters, GRN converters, non-converters and HC
aSignificant post hoc test between MAPT and GRN mutation carriers
bSignificant post hoc test between MAPT mutation carriers and healthy controls
cSignificant post hoc test between converters and non-converters
dSignificant post hoc test between converters and healthy controls
eOnly data of MAPT converters available, therefore the p value represents the comparison between MAPT converters, non-converters and HC
fDutch educational system categorized into levels from 1 = less than 6 years of primary education to 7 = academic schooling (Verhage, 1964)
gData only available on follow-up visits