Table 1.

Summary of demographic and clinical characteristics of patients with C90RF72 repeat expansion

Patient No.	Sex	Clinical diagnosis	FTLD subtype	ALS onset	Family history		Age at onset, years		Age, years	Duration, years
						FTLD	ALS	FTLD	ALS
1	F	FTLD	bvFTD	–	No	No	58	–	64 (current)	>6
2	M	FTLD	bvFTD	–	Yes	No	57	–	62 (current)	>5
3	F	FTLD	bvFTD	–	Yes	No	64	–	75 (current)	>11
4a	F	FTLD	bvFTD	–	Yes	Yes	60	–	72 (current)	>12
5	M	FTLD	bvFTD	–	Yes	No	54	–	66 (current)	>12
6b	F	FTLD	bvFTD	–	Yes	No	47	–	53 (current)	>6
7	F	FTLD	bvFTD	–	No	No	51	–	54 (current)	>3
8	M	FTLD	bvFTD	–	Yes	No	55	–	60 (current)	>5
9	M	FTLD	bvFTD	–	Yes	No	54	–	60 (current)	>6
10	M	FTLD	bvFTD	–	Yes	No	46	–	49 (current)	>3
11	F	FTLD	bvFTD	–	Yes	No	59	–	63 (current)	>4
12	M	FTLD	bvFTD	–	Yes	Yes	64	–	68 (current)	>4
13	F	FTLD	PNFA	–	No	No	60	–	71 (at death)	11
14	M	FTLD	PNFA	–	No	No	51	–	70 (current)	>19
15	M	FTLD	PNFA	–	No	No	64	–	71 (at death)	7
16	F	FTLD	PNFA	–	Yes	No	63	–	72 (at death)	9
17	F	FTLD-ALS	bvFTD	bulbar	No	No	59	60	62 (at death)	3
18	F	FTLD-ALS	PNFA	bulbar	No	Yes	54	55	58 (at death)	4
19	M	FTLD-ALS	PNFA	bulbar	Yes	No	70	70	71 (at death)	1
20	M	FTLD-ALS	bvFTD	bulbar	No	No	57	57	60 (at death)	3
21	F	FTLD-ALS	bvFTD	spinal	No	No	60	60	63 (at death)	3
22	F	FTLD-ALS	bvFTD	bulbar	No	No	66	66	69 (at death)	3

^aThe sibling is patient No.12, patient No. 4 was excluded from the association analysis.

^bThe sibling is patient No. 5, patient No. 6 was excluded from the association analysis.