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, tongue
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, arm
Dystonia, lower face
Dystonia, axial
Dystonia, leg
Dystonia, generalized
Dystonia, craniofacial
Dystonia, jaw
Show more (+7)
n.a.
Yes
n.a.
n.a.
n.a.
21
51
n.a.
Dystonia, tongue
Dystonia, jaw
Dystonia, lower face
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia, arm
Dystonia, craniofacial
Show more (+6)
n.a.
Yes
n.a.
n.a.
n.a.
8
19
n.a.
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, leg
Dystonia, craniofacial
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, arm
Show more (+5)
n.a.
Yes
n.a.
n.a.
n.a.
3
24
n.a.
Dystonia, leg
Dystonia, arm
Dystonia, cervical
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, laryngeal
Show more (+4)
n.a.
Yes
n.a.
n.a.
n.a.
11
19
n.a.
Dystonia, limb
Dystonia, lower face
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, craniofacial
Dystonia, leg
Dystonia, tongue
Dystonia, generalized
Dystonia, arm
Show more (+6)
n.a.
Yes
n.a.
n.a.
n.a.
16
19
n.a.
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, focal
n.a.
Yes
n.a.
n.a.
n.a.
12
46
n.a.
Dystonia, axial
Dystonia, tongue
Dystonia, lower face
Dystonia, jaw
Dystonia, limb
Dystonia, arm
Dystonia, craniofacial
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, cervical
Show more (+8)
n.a.
p.Phe22Ser: het
Yes
n.a.
n.a.
n.a.
29
42
n.a.
Dystonia, arm
Dystonia, cervical
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Show more (+2)
n.a.
P.Ser21Thr: het