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