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