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