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