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