Groen, 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
NLD
9
53
Yes
Dysphonia
Dystonia, limb
Dystonia, leg
Dystonia, laryngeal
Dystonia, oromandibular
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, axial
Dystonia, generalized
Dystonia, mirror
Dystonia,task-specific
Dystonia, tongue
Blepharospasm
Dystonia, cervical
Dystonia, jaw
Dystonia, arm
Show more (+13)
n.a.
Yes
C
NLD
6
28
No
Dystonia, axial
Dystonia, limb
Dysphonia
Dystonia, tongue
Dystonia, leg
Dystonia, arm
Dystonia,task-specific
Dystonia, oromandibular
Dystonia, jaw
Retrocollis
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, craniofacial
Blepharospasm
Dystonia, cervical
Dystonia, mirror
Geste antagoniste
Dystonia, generalized
Show more (+15)
n.a.
p.Thr59Ile: het
No
C
NLD
13
77
Yes
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, craniofacial
Dystonia, cervical
Dystonia, oromandibular
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, arm
Show more (+6)
n.a.
p.Asn69del: het
No
C
NLD
12
48
Yes
Dystonia,task-specific
Dystonia, limb
Dystonia, cervical
Dystonia, laryngeal
Dystonia, arm
Dystonia, hand
Dystonia, segmental/multifocal
Dystonia, craniofacial
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, jaw
Dystonia, oromandibular
Show more (+9)
n.a.
Yes
C
NLD
7
19
Yes
Dystonia, limb
Dystonia, leg
Dystonia,task-specific
Dystonia, cervical
Dystonia, generalized
Dystonia, axial
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, hand
Show more (+6)
n.a.
p.Asn69del: het
No
C
NLD
10
47
Yes
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, cervical
Dystonia, hand
Dystonia, leg
Dystonia, craniofacial
Dystonia, arm
Dystonia, oromandibular
Dystonia, tongue
Dystonia, axial
Dystonia,task-specific
Dystonia, limb
Dystonia, jaw
Show more (+11)
n.a.
p.Asn69del: het