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, craniofacial
Dystonia, jaw
Dystonia, limb
Dystonia, cervical
Dystonia, leg
Dystonia, oromandibular
Dystonia, tongue
Blepharospasm
Dystonia, lower face
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, laryngeal
Show more (+10)
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, oromandibular
Dystonia (any or unspecified)
Dystonia, jaw
Dystonia, cervical
Dystonia, lower face
Dystonia, tongue
Dystonia, segmental/multifocal
Blepharospasm
Dystonia, craniofacial
Dystonia, laryngeal
Show more (+7)
n.a.
Yes
C
DEU
5
n.a.
No
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, generalized
Dystonia, tongue
Dystonia, limb
Dystonia, foot
Dystonia, craniofacial
Dysarthria
Dystonia, jaw
Dystonia, leg
Show more (+7)
Dystonia, foot
Dystonia, leg
p.His57Asn: het
Yes
C
DEU
46
n.a.
No
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
n.a.