Table 2:
AxD patient samples
| Patient no. | Mutation | Sex | Age at illness onset (years) | Age at sample collection (years) | Death | Reference | |
|---|---|---|---|---|---|---|---|
| CSF | Blood | ||||||
| 1 | R70Q | F | 40.5 | 44.67 | Patient 12 in Caroli et al. (2007) | ||
| 2 | N77S | M | 0.16 | 1.75 | |||
| 3 | N77S | F | 1 | 3.26 | |||
| 4 | N77S, S152L | F | 0.58 | 19.19 | |||
| 5 | R79C | M | 0.5 | 17.28 | 20.84 | Patient 6 in Li et al. (2005) | |
| 6 | R79C | M | 0.25 | 6.20 | Matarese and Renaud (2008) | ||
| 7 | R79C | F | 4* | 4* | |||
| 8 | R79C | F | 0.5 | 2.02 | |||
| 9 | R79G | F | 0.29 | 2.25 | 2.65 | ||
| 10 | R79H | F | 0.58 | 6.27 | 7.11 | ||
| 11 | R79H | F | 0.5 | 1.92 | |||
| 12 | R79H | F | 1.25 | 10.51 | |||
| 13 | R79H | F | 0 | 3.07 | |||
| 14 | R79L | M | 0.5 | 4.65 | 4.65 | ||
| 15 | R88C | M | 4 | 13.36 | Patient 10 in Gorospe et al. (2002) | ||
| 16 | R88C | M | 0.75 | 2.24 | |||
| 17 | R88C | M | 2 | 5.77 | |||
| 18 | R88C | M | 10 | 15.78 | 17.87 | ||
| 19 | R88C† | F | 10 | 40.95 | Patient 3 in van der Knaap et al. (2006) | ||
| 20 | R88C† | M | 10 | 17.32 | 21.62 | Patient 4 in van der Knaap et al. (2006) | |
| 21 | R105W‡ | F | 6 | 15.74 | |||
| 22 | L123P | M | 50 | 56.72 | |||
| 23 | E207Q | M | 10.5 | 22.11 | 22.52 | Patient 12 in Li et al. (2005)
Patient 7 in van der Knaap et al. (2005) |
|
| 24 | L231H† | M | 50 | 64.88 | Delnooz et al. (2008) | ||
| 25 | L231H† | M | NA | 34.85 | |||
| 26 | R239C | M | 0.5 | 2.50 | |||
| 27 | R239C | F | 1.5 | 2.10 | |||
| 28 | R239C | F | 7.00 | 9.20 | |||
| 29 | R239C | F | 1.67 | 1.90 | |||
| 30 | R239H | F | 0.29 | 0.72 | 1.14 | ||
| 31 | R239H | F | 0 | 0.96 | 1.00 | ||
| 32 | R239P | M | 2 | 23.85 | 23.85 | Patient 1 in van der Knaap et al. (2005) | |
| 33 | R239P | M | 1.5 | 3.25 | |||
| 34 | S247P | M | 10 | 36.68 | Patient A.II.d in Messing et al. (2012a) | ||
| 35 | R258P | M | 0 | 3.72 | 2.61 | ||
| 36 | R270-A272del | F | <0.25 | 3.93 | |||
| 37 | Q290E | F | 12 | 13.82 | Patient 1 in Barreau et al. (2011) | ||
| 38 | E362Q | F | 5 | 20.52 | |||
| 39 | E371Q | M | <1 | 9.78 | |||
| 40 | E373A | F | 34 | 36.60 | |||
| 41 | E374G | F | 0 | 1.91 | 12.82 | Patient 40 in Li et al. (2005) | |
| 42 | S398F | F | 45 | 45.59 | 45.84 | ||
| 43 | S398Y | F | 51* | 56.67 | Patient 9 in Pareyson et al. (2008) and Farina et al. (2008) | ||
| 44 | M415I† | F | 40 | 52.22 | de Souza Rezende et al. (2012) | ||
| 45 | M415I†, D157N§ | F | 4 | 19.46 | de Souza Rezende et al. (2012) | ||
| 46 | R416W | M | 14 | 31.47 | 31.19 | 33.63 | |
| 47 | R416W | M | 13 | 31.68 | Patient 3 in Pareyson et al. (2008) and Farina et al. (2008) |
||
| 48 | R416W | M | 6 | 8.14 | |||
| 49 | R416W | F | 16 | 25.93 | |||
| 50 | Q426L | F | 30 | 44.15 | 44.15 | Patient C.II.1 in Messing et al. (2012a) | |
Information regarding each patient who contributed blood and/or CSF samples is shown, including gender, GFAP mutation, age of illness onset, age at sample collection, and age at death (if relevant), and sorted by GFAP mutation. For some patients, the age of illness onset was estimated (*) or the patient was asymptomatic but had a familial history of AxD (NA). All ages are given in years. References to prior publications containing additional clinical details about particular patients are also given, if available. F, Female; M, male.
Age of onset was 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.