High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis

Table 1 Clinical features and gene mutation results of the 5 ALS families

family No.	patient	gender	age at onset(y)	site of onset	Clinical phenotype	EMG test	survival(m)	gene mutation
family 1	I1	male	60	bulbar	NA	NA	72	NA
family 1	II3	male	58	bulbar	LMN + UMN	M,C,T,L	108	TARDBP:c.1009A > G,p.M337 V
family 2	II2	female	60	bulbar	NA	NA	144	NA
	II4	female	58	bulbar	LMN-dominant	M,C,T,L	120	TARDBP:c.1009A > G,p.M337 V
	II6	female	59	upper limb	LMN + UMN	M,C,T,L	> 52	TARDBP:c.1009A > G,p.M337 V
family 3	II2	male	50	upper limb	NA	NA	36	NA
	II4	male	62	upper limb	LMN + UMN	C,T,L	84	TARDBP:c.1009A > G,p.M337 V
	II5	female	61	lower limb	UMN-dominant	M,C,T,L	> 68	TARDBP:c.1009A > G,p.M337 V
family 4	I1	male	62	bulbar	NA	NA	168	NA
	II4	male	54	bulbar	LMN + UMN	M,C,T,L	> 64	TARDBP:c.1009A > G,p.M337 V
	II5	male	no symptoms					TARDBP:c.1009A > G,p.M337 V
family 5	I1	male	50	upper limb	NA	NA	120	NA
family 5	II5	male	50	upper limb	LMN-dominant	M,C,T,L	> 59	TARDBP:c.1042G > T,p.G348C

NA not available, LMN lower motor neuron, UMN upper motor neuron, EMG electromyography, M medullary, C cervical, T thoracic, L lumbar

ISSN: 1471-2377