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

Table 1 Demographic data and tissue availability by study groups

	Male: female^a	Mean age in years (SD)^b	Neuro-pathological diagnosis	Number of cases available					Mutations
	Male: female^a	Mean age in years (SD)^b	Neuro-pathological diagnosis	Pineal gland	Hypo-thalamus^c	SCN-related neurons	SON	PVN	Mutations
C9orf72 cases	6:1	56.7 (4.8)	ALS	4	4	3	3	3	C9orf72
			FTLD-TDP	2	2	2	2	2	C9orf72
			ALS-FTLD	0	1	1	1	1	C9orf72
			Total	6	7	6	6	6	/
nonC9orf72 cases	13:8	62.1 (11.2)	ALS	9	11	2	6	7	10 no mutation, 1 TARDBP
			FTLD-TDP	7	9	2	6	7	5 no mutation, 1 TUBA4A, 1 GRN, 1 VCP, 1 TBK1
			ALS-FTLD	1	1	1	1	1	No mutation
			Total	17	21	5	13	15	/
Healthy control cases	2:1	63.0 (2.7)	Healthy control	3	3	0	0	0	No mutation
Healthy control cases	2:1	63.0 (2.7)	Total	3	3	0	0	0	/

^a The sex did not significantly differ between the groups as analyzed by Fisher’s exact test (C9orf72 vs. nonC9orf72 cases, p = 0.37; C9orf72 vs. healthy control cases, p > 0.99; nonC9orf72 vs. healthy control cases, p > 0.99)
^b The age did not significantly differ between the three groups as tested by one-way ANOVA (p = 0.43)
^c This column represents the number of cases with hypothalamus sections available that were screened for the presence of SCN-related neurons, SON and PVN
VIP-ir neurons indicates vasoactive intestinal peptide-immunoreactive neurons; SON, supraoptic nucleus; PVN, paraventricular nucleus; SD, standard deviation

ISSN: 2051-5960