De Carvalho Aguiar, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
BRA
6
21
Yes
Dystonia, hand
Dystonia, leg
Dystonia, cervical
Dysphonia
Dystonia, jaw
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia, limb
Dystonia, lower face
Dystonia, generalized
Dystonia, arm
Dystonia, axial
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, foot
Show more (+12)
Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dystonia, jaw
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, hand
Dystonia, foot
Dystonia, arm
Dystonia, generalized
Dystonia, cervical
Dystonia, lower face
Dystonia, limb
Dystonia, leg
Dysphonia
Dystonia, craniofacial
Dystonia, laryngeal
Show more (+12)
Dystonia, leg
p.Met1?: het