Evidence of cerebellar TDP-43 loss of function in FTLD-TDP

Table 2 Comparisons of cerebellar tSTMN2 RNA, or soluble TDP-43 protein levels between controls and FTLD-TDP groups

	N	Median (minimum, maximum) levels	Unadjusted analysis		Adjusting for age, sex and RIN^a
	N	Median (minimum, maximum) levels	β (95% CI)	P-value	β (95% CI)	P-value
tSTMN2 RNA
Controls	25	480.6 (167.0, 2028)	0.00 (reference)	N/A	0.00 (reference)	N/A
All FTLD-TDP cases	95	825.3 (172.8, 4218)	0.9352 (0.5235 to 1.347)	< 0.0001	0.7475 (0.3797 to 1.115)	0.0001
No mutation	33	679.4 (172.8, 2542)	0.6433 (0.1641 to 1.123)	0.0009	0.6983 (0.2798 to 1.117)	0.0013
C9orf72	29	1000 (402.4, 2325)	1.107 (0.6132 to 1.600)	< 0.0001	0.8483 (0.3963 to 1.300)	0.0003
GRN	33	954.3 (233.5, 4218)	1.077 (0.5973 to 1.556)	< 0.0001	0.7264 (0.2618 to 1.191)	0.0025
TDP-43
Controls	25	1.182 (0.01877, 2.568)	0.00 (reference)	N/A	0.00 (reference)	N/A
All FTLD-TDP cases	95	0.5004 (0.01675, 3.319)	− 0.4087 (− 0.6325 to − 0.1849)	0.0004	− 0.2701 (− 0.4850 to − 0.05514)	0.0142
No mutation	33	0.9068 (0.02343, 2.538)	− 0.1938 (− 0.4464 to 0.05882)	0.1314	− 0.1458 (− 0.3835 to 0.09190)	0.2268
C9orf72	29	0.4710 (0.01675, 3.319)	− 0.4126 (− 0.6726 to − 0.1526)	0.0021	− 0.2722 (− 0.5268 to 0.01782)	0.0362
GRN	33	0.3469 (0.01689, 1.812)	− 0.6201 (− 0.8727 to 0.3675)	< 0.0001	− 0.4736 (− 0.7301 to − 0.2170)	0.0004

β = regression coefficient; CI = confidence interval; RIN = RNA integrity number. β values, 95% CIs, and p-values result from unadjusted linear regression models or linear regression models adjusted for age, sex and, when the dependent variable was RNA, RIN^a. β values are interpreted as the difference in the mean levels of each variable of interest between controls and the indicated groups. P-values < 0.0125 are considered statistically significant after correcting for the comparisons of tSTMN2 RNA or soluble TDP-43 protein between controls and 4 different FTLD-TDP groups and are marked in bold

ISSN: 2051-5960