Puschmann, 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
♂
O
n.a.
45
46
Yes
Geste antagoniste
Dystonia, focal
Dystonia, cervical
Tremor (any or unspecified)
Dystonia (any or unspecified)
Tremor, head
Torticollis
Dystonic tremor
Dystonia,task-specific
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n.a.
No
♀
O
n.a.
50
78
Yes
Dystonia (any or unspecified)
Dystonia, laryngeal
Blepharospasm
Dystonia, segmental/multifocal
Dystonia, oromandibular
Dystonia, cervical
Tremor (any or unspecified)
Tremor, head
Dysphonia
Torticollis
Dystonia, craniofacial
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n.a.