Krause, 2015: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
20
n.a.
Yes
Dystonia (any or unspecified)
Dystonia, cervical
Torticollis
Dystonia, limb
Retrocollis
Dystonia, segmental/multifocal
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n.a.
p.Met1?: het
No
n.a.
n.a.
10
n.a.
Yes
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, oromandibular
Dystonia, generalized
Dysarthria
Dystonia, limb
Dystonia, cervical
Dystonia, craniofacial
Show more (+6)
n.a.
p.Met1?: het
No
n.a.
n.a.
n.a.
n.a.
Yes
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, focal
n.a.
p.Met1?: het
No
n.a.
n.a.
7
n.a.
Yes
Dystonia, oromandibular
Dystonia,task-specific
Dystonia, axial
Dystonia, limb
Dystonia, generalized
Dystonia, leg
Dystonia, laryngeal
Dystonia, tongue
Dystonia, hand
Dystonia, craniofacial
Dystonia (any or unspecified)
Show more (+8)
Dystonia, leg
Dystonia, hand
p.Met1?: het