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, leg
Dystonia, tongue
Dystonia, arm
Dystonia, craniofacial
Dystonia, jaw
Dystonia, axial
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, lower face
Show more (+7)
n.a.
Yes
n.a.
n.a.
n.a.
21
51
n.a.
Dystonia, arm
Dystonia, tongue
Dystonia, lower face
Dystonia, jaw
Dystonia, craniofacial
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, limb
Show more (+6)
n.a.
Yes
n.a.
n.a.
n.a.
8
19
n.a.
Dystonia, arm
Dystonia, cervical
Dystonia, craniofacial
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, segmental/multifocal
Dystonia, limb
Show more (+5)
n.a.
Yes
n.a.
n.a.
n.a.
3
24
n.a.
Dystonia, leg
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, laryngeal
Dystonia, arm
Dystonia, limb
Dystonia (any or unspecified)
Show more (+4)
n.a.
Yes
n.a.
n.a.
n.a.
11
19
n.a.
Dystonia, craniofacial
Dystonia, arm
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, axial
Dystonia, leg
Dystonia, generalized
Dystonia, lower face
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, tongue
Dystonia, generalized
Dystonia, lower face
Dystonia, leg
Dystonia, limb
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, axial
Dystonia, jaw
Dystonia, cervical
Show more (+8)
n.a.
p.Phe22Ser: het
Yes
n.a.
n.a.
n.a.
29
42
n.a.
Dystonia, limb
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, segmental/multifocal
Show more (+2)
n.a.
P.Ser21Thr: het