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, generalized
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, foot
Dysphonia
Dystonia, hand
Dystonia, axial
Dystonia, arm
Dystonia, leg
Dystonia, laryngeal
Dystonia, limb
Dystonia, cervical
Dystonia, lower face
Dystonia, jaw
Show more (+12)
Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dystonia, limb
Dystonia, tongue
Dystonia, generalized
Dystonia, axial
Dystonia, leg
Dystonia, laryngeal
Dystonia, foot
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, lower face
Dysphonia
Dystonia, arm
Dystonia, cervical
Dystonia, craniofacial
Dystonia, hand
Show more (+12)
Dystonia, leg
p.Met1?: het