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, laryngeal
Dystonia, lower face
Dystonia, jaw
Dystonia, oromandibular
Dystonia, foot
Dystonia, craniofacial
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, limb
Blepharospasm
Dystonia, generalized
Dystonia, cervical
Dystonia, tongue
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Dystonia, foot
Dystonia, leg
p.Gln124*: het
Yes
C
DEU
35
n.a.
No
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, focal
n.a.
Yes
C
DEU
n.a.
n.a.
No
Dystonia, segmental/multifocal
Dystonia, jaw
Dystonia, cervical
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia, tongue
Dystonia, oromandibular
Dystonia (any or unspecified)
Blepharospasm
Dystonia, lower face
Show more (+7)
n.a.
Yes
C
DEU
5
n.a.
No
Dystonia, leg
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, laryngeal
Dystonia, limb
Dysarthria
Dystonia, tongue
Dystonia, craniofacial
Dystonia, generalized
Show more (+7)
Dystonia, leg
Dystonia, foot
p.His57Asn: het
Yes
C
DEU
46
n.a.
No
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.