Xiao, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
n.a.
51
58
No
Dystonia, focal
Dystonia, laryngeal
Dystonia (any or unspecified)
n.a.
Yes
C
n.a.
69
78
Yes
Blepharospasm
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, focal
Show more (+1)
Blepharospasm
c.-42C>T: het
Yes
C
n.a.
50
60
No
Dystonia, craniofacial
Dystonia, focal
Dystonia (any or unspecified)
Blepharospasm
Show more (+1)
Blepharospasm
c.71+9C>A: het
Yes
C
n.a.
25
64
No
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, focal
n.a.
c.71+9C>A: het
Yes
C
n.a.
8
60
Yes
Dystonia, jaw
Dystonia, hand
Dystonia,task-specific
Dystonia, limb
Dystonia, arm
Dystonia, craniofacial
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
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Dystonia, hand
Dystonia, arm
p.Gly9Cys: het
No
C
n.a.
49
50
Yes
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, cervical
n.a.
Yes
C
n.a.
62
63
No
Dystonia, laryngeal
Dystonia, focal
Dystonia (any or unspecified)
n.a.
c.-42C>T: het
Yes
C
n.a.
55
56
No
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.
c.71+9C>A: het
Yes
C
n.a.
43
56
No
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.
p.Asp17Gly: het
No
C
n.a.
18
58
Yes
Dystonia, focal
Dystonia, hand
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, limb
Dystonia,task-specific
Show more (+3)
Dystonia, hand
Dystonia, arm
p.Gly9Cys: het