Table 1

Characteristics of genetic ALS/FTD cohort

CharacteristicControls
(n=36)
Asymptomatic mutation carriers
(n=26)
gALS Ulm
(n=23)
gALS Umeå
(n=43)
gFTD
(n=23)
P values*
Age (years)†39.1
29.2–49.6
42.9
30.7–51.0
55.6
49.8–68.7
62.1
53.7–66.2
59.8
54.9–71.3
<0.0001
Sex (F/M)17/1918/810/1317/269/140.15
Gene mutations16x C9orf72
7x SOD1
2x FUS
1x TARDBP
11x C9orf72
10x SOD1
1x FUS
1x NEK1
22x C9orf72
21x SOD1
15x C9orf72
3x MAPT
4x GRN
ALSFRS-R†40
35–46‡
NA
FTLD-CDR†9.0
5.5–16.0‡
Disease duration at LP (months)†12.0
4.9–21.9‡
27.8
14.1–79.5‡
38.8
19.2–104‡
CSF CHIT1
(pg/mL)†
1433
746–2278‡
2075
1020–3060‡
13 168
5356–38 734‡
12 400
4660–23 380
2520
898–6418
<0.0001
Blood CHIT1
(pg/mL)†
17 750
11 850–30 950
20 975
12 325–30 288‡
51 850
21 950–60 575‡§
21 225
15 150–36 200‡¶
31 300
21 338–53 663§
0.0094
CSF NfL
(pg/mL)†
202
141-283‡
210
97–281‡
5240
2807–12 870‡
5451
3500–8365‡
2145
1267–4648‡
<0.0001
CSF pNfH
(pg/mL)†
188
188–188‡
188
188–188‡
2143
1362-5101‡
2577
1423–3910
345
265–499‡
<0.0001
CSF YKL-40
(ng/mL)†**
141
126–180‡
153
108–165‡
220
155–409‡
341
235–460‡
268
220–353‡
<0.0001
Blood YKL-40
(ng/mL)†
55.0
43.5–68.5
54.5
44.0–60.0‡
62.0
41.3–136‡§
60.0
36.0–94.0‡¶
67.0
47.0–101‡
0.36
CSF GFAP
(pg/mL)†
404
358–596‡
414
287–517‡
593
353–806‡
504
316–669‡
1350
637–1728‡
0.0067
Blood GFAP
(pg/mL)†**
111
88.8–121
100
83.2–134‡
93.8
65.8–162‡§
105
62.0–136‡¶
126
82.2–231‡§
0.25
  • *Kruskal-Wallis test (Χ2 test for sex).

  • †Values are median and IQR.

  • ‡Values are not available for all patients.

  • §Determined in blood serum.

  • ¶Determined in blood plasma.

  • **Age adjusted.

  • ALS, amyotrophic lateral sclerosis; ALSFRS-R, ALS Functional Rating Scale-Revised; CHIT1, chitotriosidase 1; CSF, cerebrospinal fluid; F, female; FTD, frontotemporal dementia; FTLD-CDR, Frontotemporal Lobar Degeneration-specific Clinical Dementia Rating; gALS, genetic ALS; GFAP, glial fibrillary acidic protein; gFTD, genetic FTD; LP, lumbar puncture; M, male; NA, not available; NfL, neurofilament light chain; pNfH, phosphorylated neurofilament heavy chain; YKL-40, chitinase-3-like protein 1.