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, lower face
Dystonia, tongue
Dystonia, cervical
Dystonia, foot
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, oromandibular
Dystonia, craniofacial
Dystonia, laryngeal
Blepharospasm
Dystonia, generalized
Dystonia, limb
Dystonia, leg
Show more (+10)
Dystonia, foot
Dystonia, leg
p.Gln124*: het
Yes
C
DEU
35
n.a.
No
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
n.a.
Yes
C
DEU
n.a.
n.a.
No
Dystonia, cervical
Dystonia, lower face
Blepharospasm
Dystonia, jaw
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, oromandibular
Dystonia, segmental/multifocal
Show more (+7)
n.a.
Yes
C
DEU
5
n.a.
No
Dystonia, limb
Dysarthria
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, jaw
Dystonia, tongue
Dystonia, foot
Dystonia, leg
Dystonia, laryngeal
Dystonia, generalized
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.