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 (any or unspecified)
Dystonia, focal
Tremor, head
Dystonia, cervical
Tremor (any or unspecified)
Show more (+2)
n.a.
p.Cys54Phe: het
Yes
A
CHN
20
25
Yes
Torticollis
Dystonia, axial
Dystonia, craniofacial
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia (any or unspecified)
Blepharospasm
Show more (+4)
n.a.
p.Cys54Phe: het
No
A
CHN
30
36
Yes
Tremor (any or unspecified)
Tremor, limb
Dystonia (any or unspecified)
n.a.
p.Lys89Lys: het
Yes
A
CHN
22
42
No
Dystonia, tongue
Dystonia, craniofacial
Dystonia, cervical
Blepharospasm
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, oromandibular
Dystonia, jaw
Torticollis
Dysarthria
Dystonia, laryngeal
Show more (+8)
n.a.
Yes
A
CHN
21
31
Yes
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia, jaw
Dysarthria
Dystonia, lower face
Dystonia, oromandibular
Dystonia, segmental/multifocal
Blepharospasm
Torticollis
Dystonia, cervical
Show more (+9)
n.a.
p.Asn75Ile: het
Yes
A
CHN
25
40
No
Torticollis
Dystonia, laryngeal
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, jaw
Dystonia, segmental/multifocal
Dysarthria
Dystonia, craniofacial
Dystonia, lower face
Dystonia, cervical
Show more (+7)
n.a.
No
A
CHN
n.a.
n.a.
Yes
Tremor (any or unspecified)
Dystonia, focal
Torticollis
Dystonia (any or unspecified)
Tremor, head
Dystonia, cervical
Show more (+3)
n.a.
p.Asn75Ile: het
Yes
A
CHN
21
29
Yes
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, lower face
Dystonia, jaw
Dystonia, tongue
Dystonia, segmental/multifocal
Show more (+5)
n.a.
p.Lys89Lys: het
Yes
A
CHN
12
21
Yes
Dystonia, jaw
Dystonia, craniofacial
Dystonia, tongue
Torticollis
Tremor, limb
Tremor (any or unspecified)
Dysarthria
Dystonia, cervical
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, hand
Dystonia, segmental/multifocal
Show more (+10)
Dystonia, hand
No
A
CHN
25
46
Yes
Dystonia (any or unspecified)
Dysarthria
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, tongue
Dystonia, jaw
Dystonia, laryngeal
Dystonia, craniofacial
Torticollis
Show more (+6)
n.a.