C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

Table 1 Characteristics of investigated brain samples

Disease code	Sample number	Age	Female frequency	Risk haplotype		pmi	RIN
Disease code	Sample number	Age	Female frequency	Hom	Het	pmi	RIN
NDD	9	80.3 ± 10.7	4 (50 %)	1	4	5:46 ± 1:27	8.4 ± 0,8
C9orf72-HRE	10	64.9 ± 9.0	7 (70.%)	1	9	6:18 ± 1:25	7.4 ± 1.2
FTD-MAPT	16	62.13 ± 8.05	8 (50 %)	2	7	6:11 ± 1:50	7 ± 1.1
FTD-GRN	8	61.6 ± 8.1	5 (62.5 %)	0	2	4:49 ± 1:00	6.9 ± 0,9
AD	5	82 ± 5.04	3 (60 %)	0	1	4:31 ± 1:18	7.2 ± 1,5
PSP	5	71.6 ± 9.	3 (60 %)	0	5	6:47 ± 1:46	7 ± 1.3
FTD sporadic	4	60.3 ± 10.8	2 (50 %)	1	NP	6:02 ± 1:18	7.3 ± 1.5
ALS	3	57,3 ± 21.1	1 (33.3 %)	0	1	5:28 ± 0:27	9 ± 0.05
HD	3	53.3 ± 6.6	1 (33.3 %)	0	2	7:16 ± 2:43	4.9 ± 0.6
MS	3	64.3 ± 21.5	2 (66.7 %)	0	2	6:06 ± 2:48	7.9 ± 1.3
PD	3	79.7 ± 8	0	0	1	4:55 ± 1:07	7.9 ± 0.9
Total	69			5 (7.24 %)	34 (49.3 %)

The table describes characteristics of brain samples used in this study: age, gender, sharing of risk haplotype, post mortem interval (pmi) and RNA integrity number (RIN). NDD non-demented donors, Age, pmi and RIN: per disease group indicated average and standard deviation
FTD-MAPT cases carrying pathogenic mutations: ten cases carrying the P301L mutation; four cases with the G272V mutation; one case with the R406W mutation and one case with the L315R mutation. FTD-GRN cases carrying pathogenic mutations: five cases carrying the S82Vfs mutation; one case with G300X mutation; one case with the C105fs mutation and one case carrying the Q24X mutation

ISSN: 2051-5960