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Table 2 Neuropathological analysis of the investigated brain regions

From: Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases

 C9orf72 ALS and/or FTLD-TDP casesnonC9orf72 ALS and/or FTLD-TDP casesHealthy control cases
Pineal glandNumber of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)
Poly(GA)6/6 (100%) (p < 0.0001)a4 (1; 2–4)0/17 (0%)0 (0; 0–0)0/3 (0%)0 (0; 0–0)
Poly(GP)3/3 (100%)
3 n.a.c
4 (3; 1–4)n.a.dn.a.dn.a.dn.a.d
Poly(GR)3/3 (100%)
3 n.a.c
1 (1; 1–2)n.a.dn.a.dn.a.dn.a.d
Poly(PR)2/3 (67%)
3 n.a.c
1 (1; 0–1)n.a.dn.a.dn.a.dn.a.d
pTDP-430/6 (100%) b0 (0; 0–0)0/17 (0%)0 (0; 0–0)0/3 (0%)0 (0; 0–0)
HypothalamusNumber of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)
Poly(GA)7/7 (100%)n.a.e0/21 (0%)n.a.e0/3 (0%)n.a.e
pTDP-434/7 (57%)n.a.e15/21 (71%)n.a.e0/3 (0%)n.a.e
SCN-related neuronsNumber of positive casesMean % (SD) VIP-ir neurons affectedNumber of positive casesMean % (SD) VIP-ir neurons affectedNumber of positive casesMean % (SD) VIP-ir neurons affected
Poly(GA)3/6 (50%) (p = 0.1818) a8.5 (10.6)0/5 (0%)0.0 (0.0)n.a.n.a.
pTDP-430/6 (0%) b0.0 (0.0)0/5 (0%)0.0 (0.0)n.a.n.a.
SON magno-cellular cellsNumber of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)
Poly(GA)0/6 (0%) b0 (0; 0–0)0/13 (0%)0 (0; 0–0)n.a.n.a.
pTDP-430/6 (0%) b0 (0; 0–0)0/13 (0%)0 (0; 0–0)n.a.n.a.
PVN
magnocellular cells
Number of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)Number of positive casesMedian score (IQR, range)
Poly(GA)0/6 (0%) b0 (0; 0–0)0/15 (0%)0 (0; 0–0)n.a.n.a.
pTDP-430/6 (0%) b0 (0; 0–0)0/15 (0%)0 (0; 0–0)n.a.n.a.
  1. a p-values of Mann-Whitney test are shown for comparison of poly(GA) pathology between the C9orf72 and the nonC9orf72 ALS and/or FTLD-TDP cases as a reference
  2. b No statistical analysis was performed for pTDP-43 pathology, since the pineal gland and SCN-related neurons of C9orf72 and nonC9orf72 cases do not show any pTDP-43 pathology. We neither performed statistical analysis for pathological assessments in the SON and PVN, since all cases were negative for poly(GA) and pTDP-43 pathology in the magnocellular cells of these brain nuclei
  3. c Three out of the six C9orf72 ALS and/or FTLD-TDP cases were not assessed for poly(GP), poly(GR) and poly(PR) pathology since prolonged fixation times of the pineal gland masked the detection of the aforementioned DPR inclusions
  4. d Pineal gland tissue of the nonC9orf72 ALS and/or FTLD-TDP and healthy control cases was only stained for the most abundant DPR (poly(GA)) to confirm the cases did not carry the C9orf72 repeat expansion
  5. e The general pathology in the hypothalamus was not semiquantitatively assessed
  6. n.a. indicates not available; SCN, suprachiasmatic nucleus; SON, supraoptic nucleus; PVN, paraventricular nucleus; IQR, interquartile range; SD, standard deviation