Table 3:
GFAP levels in CSF and blood of AxD patients
| Patient no. | Mutation | Sex |
GFAP levels (ng/L) |
Age at illness onset (years) |
Duration of illness (years) |
||
|---|---|---|---|---|---|---|---|
| CSF | Blood | CSF | Blood | ||||
| 1 | R70Q | F | 64 | 40.5 | 4.17 | ||
| 2 | N77S | M | 1640 | 0.16 | 1.59 | ||
| 3 | N77S | F | 802 | 1 | 2.26 | ||
| 4 | N77S, S152L | F | 480 | 0.58 | 18.61 | ||
| 5 | R79C | M | 5803 | 256 | 0.5 | 16.78 | 20.34 |
| 6 | R79C | M | 1864 | 0.25 | 5.95 | ||
| 7 | R79C | F | 3489 | 3.9* | 0.10* | ||
| 8 | R79C | F | 426 | 0.5 | 1.52 | ||
| 9 | R79G | F | 1201 | 0.29 | 1.96 | ||
| 10 | R79H | F | 14290 | 1154 | 0.58 | 5.69 | 6.53 |
| 11 | R79H | F | 255 | 0.5 | 1.42 | ||
| 12 | R79H | F | 302 | 1.25 | 9.26 | ||
| 13 | R79H | F | 572 | 0 | 3.07 | ||
| 14 | R79L | M | 20355 | 1925 | 0.5 | 4.15 | 4.15 |
| 15 | R88C | M | 238 | 4 | 9.36 | ||
| 16 | R88C | M | 46 | 0.75 | 1.49 | ||
| 17 | R88C | M | 329 | 2 | 3.77 | ||
| 18 | R88C | M | 5095 | 132 | 10 | 5.78 | 7.87 |
| 19 | R88C† | F | 1068 | 10 | 30.95 | ||
| 20 | R88C | M | 2493 | 122 | 10 | 7.32 | 11.62 |
| 21 | R105W‡ | F | 105 | 6 | 9.74 | ||
| 22 | L123P | M | 219 | 50 | 6.72 | ||
| 23 | E207Q | M | 751 | 10.5 | 11.61 | ||
| 24 | L231H† | M | 95 | 50 | 14.88 | ||
| 25 | L231H | M | 243 | N/A | N/A | ||
| 26 | R239C | M | 1007 | 0.5 | 2.00 | ||
| 27 | R239C | F | 791 | 1.5 | 0.60 | ||
| 28 | R239C | F | 504 | 7 | 2.20 | ||
| 29 | R239C | F | 237 | 1.67 | 0.23 | ||
| 30 | R239H | F | 169 | 0.29 | 0.43 | ||
| 31 | R239H | F | 711 | 0 | 0.96 | ||
| 32 | R239P | M | 24272 | 713 | 2 | 21.85 | 21.85 |
| 33 | R239P | M | 461 | 1.5 | 1.75 | ||
| 34 | S247P | M | 248 | 10 | 26.68 | ||
| 35 | R258P | M | 2721 | 750 | 0 | 2.61 | |
| 36 | R270-A272del | F | 1314 | 0.25* | 3.68* | ||
| 37 | Q290E | F | 446 | 12 | 1.82 | ||
| 38 | E362Q | F | 322 | 5 | 15.52 | ||
| 39 | E371Q | M | 704 | 0.9* | 8.88* | ||
| 40 | E373A | F | 187 | 34 | 2.60 | ||
| 41 | E374G | F | 387 | 0 | 1.91 | ||
| 42 | S398F | F | 1402 | 505 | 45 | 0.59 | 0.84 |
| 43 | S398Y | F | 112 | 51* | 5.67* | ||
| 44 | M415I† | F | 46 | 40 | 12.22 | ||
| 45 | M415I, D157N§ | F | 571 | 4 | 15.46 | ||
| 46 | R416W | M | 2478 | 62 | 14 | 17.47 | 17.19 |
| 47 | R416W | M | 545 | 13 | 18.68 | ||
| 48 | R416W | M | 712 | 6 | 2.14 | ||
| 49 | R416W | F | 64 | 16 | 9.93 | ||
| 50 | Q426L | F | 1749 | 114 | 30 | 14.15 | 14.15 |
GFAP concentrations (in ng/L) in CSF and blood of individual AxD patients. Patient 25 was asymptomatic at the time of collection. Duration of illness is defined as the age at sample collection less the age at illness onset, using the values shown in Table 2. Parent–child duos are shown together (19-20, 24-25, and 44-45), as in Table 2. All blood samples are plasma, except for three (9, 16, and 50), which are serum. N/A, not applicable.
Age at illness onset and duration of illness were estimated.
Parent–child duos are shown together on consecutive lines (19-20, 24-25, and 44-45).
The pathogenicity of the R105 mutation is uncertain.
The D157N mutation is considered a benign variant, but its impact in a compound heterozygote is not known.