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, limb
Retrocollis
Dystonia, segmental/multifocal
Torticollis
Dystonia (any or unspecified)
Dystonia, cervical
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n.a.
p.Met1?: het
No
n.a.
n.a.
10
n.a.
Yes
Dystonia, axial
Dystonia, limb
Dystonia, craniofacial
Dystonia (any or unspecified)
Dysarthria
Dystonia, cervical
Dystonia, laryngeal
Dystonia, generalized
Dystonia, oromandibular
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n.a.
p.Met1?: het
No
n.a.
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
n.a.
p.Met1?: het
No
n.a.
n.a.
7
n.a.
Yes
Dystonia, oromandibular
Dystonia, leg
Dystonia, axial
Dystonia, tongue
Dystonia, hand
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, generalized
Dystonia, limb
Dystonia,task-specific
Show more (+8)
Dystonia, leg
Dystonia, hand
p.Met1?: het