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, oromandibular
Dystonia, segmental/multifocal
Dystonia, craniofacial
Dystonia, cervical
Torticollis
Blepharospasm
Dystonia, laryngeal
Dystonia (any or unspecified)
Dysarthria
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n.a.
p.Asn75Ile: het
No
A
CHN
n.a.
n.a.
Yes
Tremor, head
Torticollis
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
Tremor (any or unspecified)
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n.a.
p.Asn75Ile: het
Yes
A
CHN
22
42
No
Dystonia, oromandibular
Torticollis
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia, laryngeal
Dystonia, craniofacial
Blepharospasm
Dysarthria
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n.a.