Cheng, 2012: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
CHN
50
58
Yes
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
Tremor, head
Tremor (any or unspecified)
Show more (+2)
n.a.
p.Cys54Phe: het
Yes
A
CHN
20
25
Yes
Blepharospasm
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, axial
Torticollis
Dystonia, cervical
Dystonia, craniofacial
Show more (+4)
n.a.
p.Cys54Phe: het
No
A
CHN
30
36
Yes
Dystonia (any or unspecified)
Tremor (any or unspecified)
Tremor, limb
n.a.
p.Lys89Lys: het
Yes
A
CHN
22
42
No
Dystonia, craniofacial
Torticollis
Dystonia, jaw
Dystonia, laryngeal
Dystonia, cervical
Dystonia, tongue
Dystonia, segmental/multifocal
Blepharospasm
Dysarthria
Dystonia (any or unspecified)
Dystonia, oromandibular
Show more (+8)
n.a.
Yes
A
CHN
21
31
Yes
Dystonia, craniofacial
Dystonia, cervical
Blepharospasm
Dysarthria
Dystonia, tongue
Dystonia, oromandibular
Dystonia, lower face
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Torticollis
Dystonia, laryngeal
Show more (+9)
n.a.
p.Asn75Ile: het
Yes
A
CHN
25
40
No
Dystonia (any or unspecified)
Dystonia, jaw
Dystonia, lower face
Dystonia, craniofacial
Dystonia, tongue
Dystonia, laryngeal
Dystonia, segmental/multifocal
Torticollis
Dystonia, cervical
Dysarthria
Show more (+7)
n.a.
No
A
CHN
n.a.
n.a.
Yes
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, cervical
Dystonia, focal
Torticollis
Tremor, head
Show more (+3)
n.a.
p.Asn75Ile: het
Yes
A
CHN
21
29
Yes
Dystonia, oromandibular
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia, tongue
Dystonia, craniofacial
Dystonia, lower face
Dystonia, jaw
Show more (+5)
n.a.
p.Lys89Lys: het
Yes
A
CHN
12
21
Yes
Dysarthria
Dystonia, craniofacial
Dystonia, laryngeal
Tremor (any or unspecified)
Dystonia (any or unspecified)
Torticollis
Dystonia, jaw
Dystonia, limb
Dystonia, cervical
Dystonia, hand
Tremor, limb
Dystonia, segmental/multifocal
Dystonia, tongue
Show more (+10)
Dystonia, hand
No
A
CHN
25
46
Yes
Dystonia, cervical
Torticollis
Dystonia, laryngeal
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, jaw
Dystonia, craniofacial
Dysarthria
Show more (+6)
n.a.