From: Quantitative patterns of motor cortex proteinopathy across ALS genotypes
 | Primary motor cortex | Spinal cord | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
Anterior horn | Corticospinal tract | |||||||||
Genotype | n = | Statistic | Positive pixel count/3mm2 | Positive cell count/3mm2 | Neuron size (μm2) | PPC/2.25mm2 | PCC/2.25mm2 | Positive cell count/1.75mm2 | ||
pTDP-43 | p62 | CD68 (GMb) | CD68 (WMc) | pTDP-43 | CD68 | CD68 | ||||
Control | 11 | Mean | – | 139.0 | 164.3 | 399.4 | 2163.0 | – | 271.2 | 140.3 |
95% CIa | – | 76.0–254.0 | 93.2–289.6 | 226.6–703.8 | 1429.0–2897.0 | – | 174.3–421.9 | 90.1–218.3 | ||
Sporadic | 19 | Mean | 14,662.3 | 989.3 | 707.7 | 1613.6 | 763.9 | 11,626.9 | 1104.5 | 993.6 |
95% CI | 9088.2–23,655.1 | 653.4–1497.9 | 477.6–1048.5 | 1089.1–2390.7 | 495.5–1032.0 | 7612.5–17,758.1 | 850.5–1434.3 | 765.1–1290.4 | ||
C9ORF72 | 16 | Mean | 7143.1 | 1020.8 | 389.3 | 1353.8 | 794.9 | 10,068.0 | 1228.3 | 1179.0 |
95% CI | 4300.9–11,863.4 | 649.6–1604.1 | 253.8–597.2 | 882.6–2076.5 | 494.4–1095.0 | 6346.1–15,972.9 | 917.1–1645.0 | 880.3–1579.0 | ||
SOD1 | 11 | Mean | – | 186.1 | 123.6 | 366.0 | 469.5 | – | 987.3 | 837.7 |
95% CI | – | 107.8–321.0 | 73.9–206.8 | 219.0–611.9 | 258.1–681.0 | – | 694.1–1404.4 | 588.9–1191.6 | ||
FUS | 9 | Mean | – | 264.1 | 471.0 | 490.0 | 404.4 | – | 1489.1 | 782.0 |
95% CI | – | 144.5–482.7 | 267.3–829.9 | 278.1–863.4 | 190.9–618.0 | – | 1008.7–2198.3 | 529.7–1154.5 | ||
CHMP2B | 2 | Mean | 259.5 | 229.0 | 188.5 | 382.5 | 217.5 | 5673.0 | 1251.0 | 679.0 |
95% CI | – | – | – | – | 71.38–363.6 | – | – | – | ||
TARDBP | 1 | Mean | 2970.0 | 144.0 | 205.0 | 910.0 | 853.0 | 7779.0 | 881.5 | 649.0 |
95% CI | – | – | – | – | – | – | – | – | ||
HNRNPA1 | 1 | Mean | 463.0 | 142.0 | 305.0 | 547.0 | 325.0 | 10,975.0 | 2149.0 | 1189.0 |
95% CI | – | – | – | – | – | – | – | – | ||
OPTN | 1 | Mean | 40,668.0 | 3514.0 | 383.0 | 1954.0 | 1363.0 | 1649.0 | 28.5 | 85.0 |
95% CI | – | – | – | – | – | – | – | – |