Table 1.

Clinical Characteristics of 28 GNAL Patients from 8 Families

	Gender	Age onset (yrs)	Age exam (yrs)	Dystonia distribution	Site of onset	Allele variant$	Protein variant$
FAMILY D1*						c.409G>A V137M	p.V137M
1	M	31	75	S	Neck
2	M	44	63	S	Neck,Larynx,Trunk
3	F	26	62	S	Neck
4^	M	7	69	G	Legs
5	F	50	60	S	Neck
6	F	22	49	S	Neck
7	F	19	51	S	Neck, Face
FAMILY P *						c.878C>A	p.S293X
1	F	48	68	F	Neck
2	M	35	38	G	Neck
3	M	47	48	F	Neck
4^	F	25	47	G	Leg
5	M	32	44	S	Neck
6	M	35	41	F	Neck
FAMILY S*						c.463G>A	p.E155K
1^	M	18	38	F	Neck
2	M	17	38	S	Neck
FAMILY D2						c.283-284insT	p.S95fsX110
1	F	33	46	S	Neck
2^	F	39	44	S	Jaw
3	F	18	31	S	Neck
4	F	11	19	F	Tongue
FAMILY H						c.591-592insA	p.R198fsX210
1	M	47	72	F	Neck
2^	F	38	39	F	Neck
3	F	31	41	F	Neck
FAMILY B						g.chr18:11,753,820#
1	M	54	59	F	Neck	c.274-5T>C
2^	F	36	50	S	Neck
FAMILY T						c.61C>T	p.R21X
1^	M	25	45	F	Neck
2	M	42	54	F	Neck
3	F	25	33	S	Larynx
FAMILY N						c.304-312delCCTCCAGTT	p.P102-V104del
1^	M	20	56	F	Neck

Gender: F – female, M – male; Dystonia distribution: F – focal, S – segmental, M – multifocal, G – generalized

^{^}Denoted probands

^*reported previously and updated here: Fam D1 in^13,14,58, Fam P in¹⁴ and¹⁵, Fam S in⁵⁹. The following are the corresponding identifiers from¹³ for the individuals in D1: 1=individual 207, 2=302, 3=307, 4=304, 5=317, 6=315, 7=403.

^$numbering based on NM_001142339 and NP_001135811

^#splice mutation, genomic position from hg19 assembly