TABLE 2.

Clinical characteristics of patients published in the literature with THAP1 mutations and classification of mutations according to computational prediction

					First Symptom (%)				Pathogenicity of Mutation (%)
	Mean Age at Onset Years (SD)	Family History (%)	Gender Distribution (Females) (%)	Speech Involvement (%)	Limb	Cervical	Cranial	Laryngeal	Benign	Possibly Damaging	Probably Damaging
Patients (total number = 100)	24.4 (18.6)	62	60	58	44	31	15	10	23	11	66
Type of dystonia
Generalized (37%)	11.7 (8.7)	78.4	56.8	54.1	62.2	18.9	13.5	5.4	2.7	13.5	83.8
Segmental (30%)	24.7 (16.5)	56.7	50	50	40	30	20	10	23.3	6.7	70
Multifocal (6%)	19 (19)	100	66.7	33.3	100	0	0	0	0	16.7	83.3
Focal (27%)	42.8 (15.7)	37	77.8	18.5	11.1	55.6	14.8	18.5	55.6	11.1	33.3

SD, standard deviation.