Fuchs, 2009: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
n.a.
7
64
Yes
Dystonia, leg
Dystonia, limb
Blepharospasm
Dystonia, laryngeal
Dystonia, axial
Dystonia, arm
Dystonia, craniofacial
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, cervical
Show more (+7)
Dystonia, leg
No
C
DEU
13
42
Yes
Dystonia, axial
Dystonia, jaw
Dystonia, tongue
Dystonia, lower face
Dystonia, cervical
Dystonia, laryngeal
Dystonia, limb
Dystonia, leg
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, craniofacial
Show more (+9)
n.a.
p.Phe81Leu: het
No
C
DEU
13
46
Yes
Dystonia, cervical
Dystonia, lower face
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, generalized
Dystonia, craniofacial
Dystonia, arm
Dystonia, leg
Blepharospasm
Dystonia, jaw
Dystonia, tongue
Show more (+9)
Dystonia, leg
p.Phe81Leu: het
No
O
n.a.
9
13
Yes
Dystonia, arm
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Show more (+1)
Dystonia, arm
No
O
n.a.
20
43
Yes
Dystonia, lower face
Dystonia, tongue
Blepharospasm
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, segmental/multifocal
Show more (+3)
n.a.
No
O
n.a.
10
23
Yes
Blepharospasm
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, arm
Dystonia, jaw
Dystonia, tongue
Dystonia, lower face
Dystonia, cervical
Show more (+8)
n.a.
No
O
n.a.
6
10
Yes
Dystonia, generalized
Dystonia, limb
Dystonia, axial
Dystonia, leg
Dystonia, tongue
Dystonia, craniofacial
Dystonia, cervical
Dystonia, arm
Dystonia, lower face
Dystonia (any or unspecified)
Show more (+7)
n.a.
No
O
n.a.
24
40
Yes
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, lower face
Dystonia, laryngeal
Dystonia, arm
Dystonia, leg
Blepharospasm
Dystonia, craniofacial
Show more (+6)
n.a.
No
O
n.a.
6
34
Yes
Dystonia, laryngeal
Dystonia, arm
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia, limb
Dystonia, leg
Dystonia (any or unspecified)
Show more (+4)
Dystonia, arm
No
O
n.a.
15
17
Yes
Dystonia, limb
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, segmental/multifocal
Show more (+2)
n.a.