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)
Patient no.	Mutation	Sex	CSF	Blood	Age at illness onset (years)	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.