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