Cheng, 2011: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♂
A
CHN
21
31
Yes
Dystonia, craniofacial
Dystonia, cervical
Dystonia, segmental/multifocal
Dysarthria
Dystonia, laryngeal
Torticollis
Dystonia (any or unspecified)
Blepharospasm
Dystonia, oromandibular
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n.a.
p.Asn75Ile: het
No
♀
A
CHN
n.a.
n.a.
Yes
Tremor, head
Dystonia, focal
Torticollis
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, cervical
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n.a.
p.Asn75Ile: het
Yes
♂
A
CHN
22
42
No
Dystonia (any or unspecified)
Dystonia, oromandibular
Dysarthria
Dystonia, craniofacial
Dystonia, laryngeal
Blepharospasm
Dystonia, cervical
Dystonia, segmental/multifocal
Torticollis
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n.a.