Deik, 2012: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
2
18
n.a.
Dystonia, arm
Dystonia, axial
Dystonia, jaw
Dystonia, tongue
Dystonia, craniofacial
Dystonia, leg
Dystonia, lower face
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, generalized
Show more (+7)
n.a.
Yes
n.a.
n.a.
n.a.
21
51
n.a.
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, jaw
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, arm
Dystonia, cervical
Dystonia, craniofacial
Dystonia, lower face
Show more (+6)
n.a.
Yes
n.a.
n.a.
n.a.
8
19
n.a.
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, limb
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, tongue
Dystonia, leg
Dystonia, craniofacial
Show more (+5)
n.a.
Yes
n.a.
n.a.
n.a.
3
24
n.a.
Dystonia, arm
Dystonia, segmental/multifocal
Dystonia, laryngeal
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, cervical
Show more (+4)
n.a.
Yes
n.a.
n.a.
n.a.
11
19
n.a.
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, craniofacial
Dystonia, arm
Dystonia, limb
Dystonia, lower face
Dystonia, axial
Dystonia, leg
Dystonia, generalized
Show more (+6)
n.a.
Yes
n.a.
n.a.
n.a.
16
19
n.a.
Dystonia, laryngeal
Dystonia, focal
Dystonia (any or unspecified)
n.a.
Yes
n.a.
n.a.
n.a.
12
46
n.a.
Dystonia, limb
Dystonia, jaw
Dystonia, tongue
Dystonia, cervical
Dystonia, craniofacial
Dystonia, lower face
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, generalized
Dystonia, leg
Dystonia, axial
Show more (+8)
n.a.
p.Phe22Ser: het
Yes
n.a.
n.a.
n.a.
29
42
n.a.
Dystonia, arm
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, segmental/multifocal
Show more (+2)
n.a.
P.Ser21Thr: het