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, arm
Blepharospasm
Dystonia, leg
Dystonia, limb
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, craniofacial
Show more (+5)
n.a.
p.Asn69del: het
Yes
♀
n.a.
n.a.
20
71
Yes
Dystonia, jaw
Dystonia, arm
Dystonia, tongue
Dystonia, generalized
Dystonia, laryngeal
Dysarthria
Dystonia (any or unspecified)
Dysphonia
Dystonia, cervical
Myoclonus
Dystonia, leg
Dystonia, craniofacial
Dystonia, limb
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, arm
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, laryngeal
Blepharospasm
Dysphonia
Dystonia, limb
Dystonia, craniofacial
Dystonia, leg
Show more (+6)
n.a.
Yes
♂
n.a.
n.a.
9
30
No
Dystonia, cervical
Dysarthria
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, craniofacial
Dystonia, tongue
Dystonia, arm
Dystonia, laryngeal
Dystonia, segmental/multifocal
Dystonia, jaw
Dysphonia
Show more (+8)
Dystonia, arm
No
♀
n.a.
n.a.
13
17
Yes
Dystonia, generalized
Dysarthria
Dystonia, jaw
Myoclonus
Dystonia, leg
Dystonia, craniofacial
Dystonia, cervical
Dystonia, limb
Dystonia (any or unspecified)
Dysphonia
Dystonia, laryngeal
Dystonia, tongue
Dystonia, arm
Show more (+10)
n.a.
p.Ser6Pro: het