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, jaw
Dystonia, lower face
Dystonia, limb
Dystonia, foot
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, oromandibular
Dystonia, tongue
Blepharospasm
Dystonia, generalized
Dystonia, craniofacial
Dystonia, leg
Dystonia, laryngeal
Show more (+10)
Dystonia, foot
Dystonia, leg
p.Gln124*: het
Yes
C
DEU
35
n.a.
No
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.
Yes
C
DEU
n.a.
n.a.
No
Dystonia, oromandibular
Dystonia, segmental/multifocal
Dystonia, tongue
Dystonia, laryngeal
Dystonia, jaw
Blepharospasm
Dystonia, craniofacial
Dystonia, cervical
Dystonia, lower face
Dystonia (any or unspecified)
Show more (+7)
n.a.
Yes
C
DEU
5
n.a.
No
Dysarthria
Dystonia, jaw
Dystonia, tongue
Dystonia, leg
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, generalized
Dystonia, craniofacial
Dystonia, foot
Show more (+7)
Dystonia, leg
Dystonia, foot
p.His57Asn: het
Yes
C
DEU
46
n.a.
No
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.