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