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