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