Söhn, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
DEU
n.a.
n.a.
No
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, craniofacial
Dystonia, generalized
Dystonia, tongue
Dystonia, jaw
Dystonia, limb
Dystonia, leg
Dystonia, lower face
Blepharospasm
Dystonia, oromandibular
Dystonia, laryngeal
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Dystonia, foot
Dystonia, leg
p.Gln124*: het
Yes
C
DEU
35
n.a.
No
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.
Yes
C
DEU
n.a.
n.a.
No
Dystonia, jaw
Dystonia, craniofacial
Dystonia, lower face
Dystonia, oromandibular
Blepharospasm
Dystonia, segmental/multifocal
Dystonia, tongue
Dystonia, laryngeal
Dystonia, cervical
Dystonia (any or unspecified)
Show more (+7)
n.a.
Yes
C
DEU
5
n.a.
No
Dystonia, foot
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia, leg
Dystonia, jaw
Dysarthria
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, tongue
Show more (+7)
Dystonia, foot
Dystonia, leg
p.His57Asn: het
Yes
C
DEU
46
n.a.
No
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.