Table 1.

Demographic and clinical characteristics of patients with the GNAL mutation

	Case 1[9]	Case 2[9]	Case 3[9]	Case 4[7]	Case 5[8]	Case 6[8]	Case 7[10]	Case 8 (index patient)
Distribution	Segmental	Cervical	Generalized	Segmental	Segmental	Segmental	Generalized	Generalized
Sex	Female	Male	Female	Female	Male	Female	Female	Male
Family history	Y	Y	Y	Y	Y	Y	N	N
Age at onset, year	38	42	18	54	36	42	47	12
Years until first DBS	15	11	23	6	19	20	n.a	7
DBS settings	Left GPi: 0–3+, 4 V, 90 μs, 185 Hz	Left GPi-1: C+0-, 3 V, 90 μs, 125 Hz	Left GPi: C+1-, 4.5 V, 60 μs, 145 Hz	Left GPi: C+8-, 2.3 V, 120 μs, 180 Hz	Left GPi: C+1-, 2.5 V, 90 μs, 130 Hz	Left GPi-1: C+0-, 1.25 V, 60 μs, 125 Hz	n.a	Left GPi: C+2-, 2.5 V, 150 μs, 150 Hz
		Left GPi-2: C+1, 3 V, 90 μs, 125 Hz				Left GPi-2: C+1-, 2 V, 60 μs, 125 Hz
	Right GPi: 8–11+, 6 V, 120 μs, 185 Hz	Right GPi-1: C+1-, 3 V, 90 μs, 125 Hz	Right GPi: C+5-, 4.2 V, 90 μs, 145 Hz	Right GPi: C+0-, 2.3 V, 120 μs, 180 Hz	Right GPi: - 8+9, 2 V, 90 μs, 130 Hz	Right GPi-1: C+1-, 2.15 V, 60 μs, 125 Hz		Right GPi: C+2-, 2.5 V, 150 μs,150 Hz
		Right GPi-2: C+0-, 3 V, 90 μs, 125 Hz				Right GPi-2: C+2-, 60 μs, 125 Hz
Dystonia Motor Scale, Preoperative	n.a	24†	21†	26*	16*	12*	22†	30*
Response rate (%)
Early follow-up (1–12 months)	n.a	29.2†	28.6†	n.a	68.7*	n.a.	68.2†	40.0*
Late follow-up (12–96 months)	n.a	45.8†	57.1†	80.8*	n.a	n.a	n.a	70.0*

^*Burke-Fahn-Marsden Dystonia Rating Scale,

^†Toronto Western Spasmodic Torticollis Rating Scale.

DBS: deep brain stimulation, GPi: globus pallidus interna.