Clot, 2011: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
11
30
No
Dystonia, cervical
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, generalized
Blepharospasm
Dystonia, leg
Dystonia, arm
Dystonia, limb
Show more (+5)
n.a.
p.Asn69del: het
Yes
n.a.
n.a.
20
71
Yes
Dysphonia
Dystonia, leg
Dysarthria
Dystonia, laryngeal
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, generalized
Dystonia, cervical
Dystonia, craniofacial
Dystonia, jaw
Myoclonus
Dystonia, tongue
Show more (+10)
n.a.
p.Leu72Arg: het
No
n.a.
n.a.
20
60
Yes
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, cervical
n.a.
p.Ser6Pro: het
Yes
n.a.
n.a.
12
25
No
Dystonia, limb
Dystonia, laryngeal
Dystonia (any or unspecified)
Dysphonia
Dystonia, arm
Dystonia, leg
Blepharospasm
Dystonia, craniofacial
Dystonia, generalized
Show more (+6)
n.a.
Yes
n.a.
n.a.
9
30
No
Dystonia, cervical
Dystonia, limb
Dystonia, segmental/multifocal
Dysphonia
Dystonia, laryngeal
Dysarthria
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, arm
Dystonia, jaw
Show more (+8)
Dystonia, arm
No
n.a.
n.a.
13
17
Yes
Dysphonia
Dystonia, arm
Dysarthria
Dystonia, leg
Dystonia, jaw
Dystonia, craniofacial
Myoclonus
Dystonia, generalized
Dystonia, cervical
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, tongue
Show more (+10)
n.a.
p.Ser6Pro: het