Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

BMC Medical Genomics

Table 4 The demographic and clinical features of the ALS patients carrying the TARDBP G298S mutation

Patient^a	F1	F2	F3-1	F3-2	F4	F5	F6	F7	S1	S2	S3	S4	S5	S6	S7	S8
Gender	F	F	F	M	F	F	F	M	F	M	F	F	M	M	M	M
Birthplace^b	GD	GD	GD	GD	GD	GD	GD	GD	GX	GD	GD	GD	GX	GD	GX	GD
Diagnosis level^e	Def	Def	Def	Def	Def	Prob	Poss	Def	Def	Def	Prob	Def	Poss	Def	Poss	Def
AAO (years)	50	50	62	54	73	49	53	46	43	53	38	39	59	49	52	59
Site of onset^c	U	L	U	B	U	B	U	B	U	U	U	B	U	U	B	U + L
UMN signs	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes
LMN signs	No	Yes	Yes	Yes	Yes	Yes	No	No	Yes	Yes	Yes	Yes	No	Yes	Yes	Yes
Fasciculation	Yes	Yes	Yes	No	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
ALSFRS-R	48	46	44	NA	40	37	37	45	42	42	NA	NA	NA	46	40	20
Survival (months)	> 48	15	13	20	10	11	20	14	NA	14	NA	< 7	NA	24	8	NA
EMG^d	NA	Fib Fas PSW	Fib Fas PSW	Fib Fas PSW	Fib Fas PSW	Fib Fas PSW	Fib Fas PSW	Fib Fas PSW	Fib Fas PSW	Fib Fas PSW	NA	Fib Fas PSW	NA	Fib Fas PSW	Fib Fas PSW	NA
Other variants	No	No	No	No	No	No	ALS2 A1550T	SPG11 L1982S	No	No	No	No	FIG4 I220V	NEK1 D1208N	No	No
Smoking	No	No	No	No	No	No	No	No	No	Yes	NA	No	NA	Yes	No	No
Drinking	No	No	No	No	No	No	No	No	No	No	NA	No	NA	No	No	No
Pesticide	No	No	No	No	No	No	No	Yes	No	No	NA	No	NA	Yes	No	No

^aPatient: F, familial case, S = sporadic case, F3-1 (II-2) and F3-2 (II-3) are the two cases in the family 3; ^bBirthplace: GD, Guangdong; GX, Guangxi; ^cSite of onset: U upper limb, L Lower limb, B Bulbar, ^dEMG: Fib, Fibrillations, Fas, fasciculations, PSW, positive sharp waves; Diagnosis level: Def, definite; Prob, probable; Poss, possible. NA, not available

ISSN: 1755-8794