Table 1.
Subject characteristics
| Plasma available (n = 64) |
CSF available (n = 35) |
|||
|---|---|---|---|---|
| controls | GRN mutation carriers | controls | GRN mutation carriers | |
| Number (male) | 29 (11) | 35 (12)a | 12 (4) | 23 (9) |
| Number of symptomatic subjects | – | 7 | – | 7 |
| MMSE (range) | 30 (25–30)c | 30 (0–30)b | 30 (28–30) | 29 (18–30) |
| AAO, years (IQR) | – | 59.1 (57.6–65.8)c | – | 57.6 (55.1–65.5)c |
| Age at collection, years (IQR) | 58.6 (51.8–63.5) | 58.1 (53.4–64.3) | 58.1 (50.8–64.0) | 57.4 (54.7–61.0) |
| Time between onset and collection, years (range) | – | 2.3 (–1.2 to 5.3) | – | 2.0 (–1.2 to 5.0) |
| Time between plasma and CSF collection, days (range) | 35 (0–265) | 19 (0–597) | 35 (0–265) | 19 (0–597) |
| PGRN level, ng/ml (range) | 28.5 (21.5–39.2) | 8.0 (5.2–11.3) | 0.76 (0.60–1.25) | 0.29 (0.15–0.46) |
Values are displayed as medians. MMSE = Mini-Mental State Examination; IQR = interquartile range.
a
Mutations: p.Ser82Valfs, n = 23; p.Gln125*, n = 9; p.Val411Serfs, n = 2; p.Gln130Serfs, n = 1.
b
Presymptomatic GRN mutation carriers median MMSE score = 30 (range 26–30), symptomatic carriers median MMSE score = 18 (range 0–26).
c
Only known AAO in 7 patients and 1 presymptomatic carrier who converted after collection.