Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

Davidson, Yvonne S.; Robinson, Andrew C.; Flood, Louis; Rollinson, Sara; Benson, Bridget C.; Asi, Yasmine T.; Richardson, Anna; Jones, Matthew; Snowden, Julie S.; Pickering-Brown, Stuart; Lashley, Tammaryn; Mann, David M. A.

doi:10.1186/s40478-017-0454-4

Table 1 Selected clinical, neuropathological and genetic details on patients studied

From: Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

case ID#	MRC ID#	clinical	TDP subtype	mutation	gender	PMI (h)	Onset (y)	Death (y)	Duration (y)
1*	BBN_5681	bvFTD	FTLD-TDP A	C9ORF72	M	74	49	58	9
2*	BBN_5706	bvFTD	FTLD-TDP A	C9ORF72	M	28	60	68	8
3*	BBN_5719	bvFTD	FTLD-TDP A	C9ORF72	F	74	59	64	5
4*	BBN_5752	bvFTD	FTLD-TDP A	C9ORF72	M	na	64	72	8
5	BBN_14793	bvFTD	FTLD-TDP A	C9ORF72	M	81	54	65	11
6	BBN_5756	FbvTD	FTLD-TDP B	C9ORF72	F	48	52	70	18
7*	BBN_5771	FTD + MND	FTLD-TDP B	C9ORF72	F	50	63	65	2
8*	BBN_5772	FTD + MND	FTLD-TDP B	C9ORF72	F	50	68	73	5
9	BBN_5691	FTD + MND	FTLD-TDP B	C9ORF72	M	72	60	62	2
10*	BBN_5663	FTD + MND	FTLD-TDP B	C9ORF72	M	36	57	59	2
11*	BBN_5742	PNFA	FTLD-TDP A	GRN V452WfsX38	M	57	66	71	5
12	BBN_10260	PNFA	FTLD-TDP A	GRN V452WfsX38	M	25	62	72	10
13*	BBN_5660	bvFTD	FTLD-TDP A	GRN V452WfsX38	F	13	53	71	18
14	BBN_5773	bvFTD	FTLD-TDP A	GRN Q130SfsX124	M	74	66	73	7
15	BBN_5715	PNFA	FTLD-TDP A	GRN Q130SfsX124	F	24	63	71	8
16*	BBN_5727	PNFA	FTLD-TDP A	GRN C31LfsX34	M	104	66	73	7
17	BBN_5718	bvFTD	FTLD-TDP A	GRN R493X	M	35	59	66	7
18	BBN_5675	bvFTD	FTLD-TDP A	GRNR493X	F	12	51	61	10
19	BBN_5686	bvFTD	FTLD-TDP A	GRN Q468X	F	48	60	66	6
20	BBN_5734	bvFTD	FTLD-TDP A	none	M	48	69	75	6
21*	BBN_5685	PNFA	FTLD-TDP A	none	M	19	68	78	10
22	BBN_5757	PNFA	FTLD-TDP A	none	F	72	66	77	11
23	BBN_5753	bvFTD	FTLD-TDP A	none	F	46	66	72	6
24	BBN005.28193	bvFTD	FTLD-TDP A	none	F	144	67	72	5
25	BBN005.29059	bvFTD	FTLD-TDP A	none	M	52	67	71	4
26	BBN_5661	FTD + MND	FTLD-TDP B	none	M	21	43	45	2
27*	BBN_5676	FTD + MND	FTLD-TDP B	none	M	na	60	68	8
28*	BBN_5701	FTD + MND	FTLD-TDP B	none	M	30	45	51	6
29*	BBN_5721	FTD + MND	FTLD-TDP B	none	M	87	58	69	11
30	BBN_5732	FTD + MND	FTLD-TDP B	none	F	164	50	52	3
31*	BBN_5764	FTD + MND	FTLD-TDP B	none	M	110	61	65	4
32	BBN_24314	FTD + MND	FTLD-TDP B	none	F	133	61	63	2
33	BBN005.28645	FTD + MND	FTLD-TDP B	none	M	114	64	69	5
34	BBN_5678	SD	FTLD-TDP C	none	M	48	54	68	14
35	BBN_5708	SD	FTLD-TDP C	none	F	28	55	66	11
36*	BBN_5720	SD	FTLD-TDP C	none	M	59	60	75	15
37	BBN_5726	SD	FTLD-TDP C	none	F	104	56	67	11
38	BBN_5736	SD	FTLD-TDP C	none	F	168	70	72	2
39*	BBN_5731	SD	FTLD-TDP C	none	M	44	71	77	6
40	BBN_16418	SD	FTLD-TDP C	none	M	29	56	68	12
41	BBN_19623	SD	FTLD-TDP C	none	F	86	68	82	14
42	BBN005.26066	SD	FTLD-TDP C	none	M	59	52	66	14
43	BBN005.28698	SD	FTLD-TDP C	none	M	35	57	77	20
44	BBN_5659	bvFTD	FTLD-tau	MAPT exon 10 + 16	M	46	50	61	11
45	BBN_5696	bvFTD	FTLD-tau	MAPT exon 10 + 16	F	52	46	58	12
46	BBN_5699	bvFTD	FTLD-tau	MAPT exon 10 + 16	M	30	43	55	12
47	BBN_5717	bvFTD	FTLD-tau	MAPT exon 10 + 16	F	23	52	65	13
48	BBN_5744	bvFTD	FTLD-tau	MAPT exon 10 + 16	F	33	50	60	10
49*	BBN_5733	bvFTD	FTLD-tau	MAPT exon 10 + 16	M	24	46	53	7
50	BBN_5760	bvFTD	FTLD-tau	MAPT exon 10 + 16	F	96	48	63	15
51	BBN_5763	bvFTD	FTLD-tau	MAPT exon 10 + 16	F	48	52	58	6
52	BBN_6081	bvFTD	FTLD-tau	MAPT exon 10 + 16	F	26	53	63	10
53	BBN005.29180	bvFTD	FTLD-tau	MAPT exon 10 + 16	F	83	60	69	9
54	BBN_5710	bvFTD	FTLD-tau	MAPT exon 10 + 13	M	43	65	70	5
55	BBN_3109	Control	none	none	F	72	na	76	na
56	BBN_3124	Control	none	none	F	44	na	82	na
57	BBN_3126	Control	none	none	M	52	na	80	na
58*	BBN_3378	Control	none	none	F	48	na	77	na
59	BBN_3447	Control	none	none	F	41	na	80	na
60	BBN_20608	Control	none	none	F	130	na	76	na
61	BBN_3337	Control	none	none	F	12	na	87	na
62*	BBN_3430	Control	none	none	M	49	na	84	na
63	BBN_25922	Control	none	none	F	103	na	100	na
64	BBN_25974	Control	none	none	M	93	na	91	na
65	BBN_8556	bvFTD	FTLD-TDP A	C9orf72	M	77	53	63	10
66	BBN_8109	PNFA	FLTD-TDP A	C9orf72	F	85	56	67	11
67	BBN_20082	PNFA	FTLD-TDP A	C9orf72	F	63	57	62	5
68	BBN007.29537	bvFTD	FTDL-TDP A	C9orf72	M	52	66	71	5
69	BBN007.26830	bvFTD	FTLD-TDP A	C9orf72	F	107	58	66	8
70	BBN_11628	bvFTD	FLTD-TDP A	TBK1	M	97	62	72	10
71	BBN_11698	bvFTD	FTLD-TDP A	none	F	85	57	63	6
72	BBN_11574	bvFTD	FTDL-TDP A	none	F	8	70	83	13
73	BBN_12507	bvFTD	FTLD-TDP A	none	M	93	57	62	5
74	BBN007.29538	bvFTD	FLTD-TDP A	GRN C31LfsX34	M	29	49	55	6
75	BBN_12169	bvFTD	FTLD-TDP B	C9orf72	F	94	64	66	2
76	BBN_12136	MND	FTLD-TDP B	none	M	70	67	69	2
77	BBN_11773	MND	FTLD-TDP B	none	F	30	75	77	2
78	BBN_12451	FTD/MND	FTLD-TDP B	none	F	46	63	67	4
79	BBN_12331	bvFTD	FTLD-TDP B	none	F	45	63	83	20
80	BBN_12480	SD	FTLD-TDP C	none	F	38	58	73	15
81	BBN_12524	SD	FTLD-TDP C	none	F	84	59	73	14
82	BBN_11594	SD	FTLD-TDP C	none	M	27	64	78	14
83	BBN_11883	SD	FTLD-TDP C	none	M	19	64	74	10
84	BBN_8614	SD	FTLD-TDP C	none	M	52	50	65	15
85	BBN_12300	SD	FTLD-TDP C	none	M	71	61	66	5
86	BBN007.26814	SD	FTLD-TDP C	none	M	76	44	67	23
87	BBN007.26851	PNFA	FTLD-TDP C	none	F	26	77	80	3
88	BBN007.26876	SD	FTLD-TDP C	none	F	31	58	72	14
89	BBN007.26890	SD	FTLD-TDP C	none	M	40	67	76	9
90	BBN007.29539	SD	FTLD-TDP C	none	F	25	52	65	13

PMI Post mortem delay interval, na data unavailable. Cases with asterix denote that new blocks were cut for the study from long-standing archived fixed tissues
The asterix (*) denotes cases where new tissue blocks were cut from archived samples, the original diagnostic samples no longer being available for analysis

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ISSN: 2051-5960

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