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