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, arm
Blepharospasm
Dystonia, cervical
Dystonia, craniofacial
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, leg
Show more (+5)
n.a.
p.Asn69del: het
Yes
n.a.
n.a.
20
71
Yes
Dystonia, generalized
Dystonia (any or unspecified)
Dysarthria
Myoclonus
Dystonia, laryngeal
Dystonia, jaw
Dystonia, leg
Dystonia, limb
Dysphonia
Dystonia, cervical
Dystonia, tongue
Dystonia, arm
Dystonia, craniofacial
Show more (+10)
n.a.
p.Leu72Arg: het
No
n.a.
n.a.
20
60
Yes
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.
p.Ser6Pro: het
Yes
n.a.
n.a.
12
25
No
Dystonia, leg
Dystonia, limb
Blepharospasm
Dystonia, laryngeal
Dystonia, arm
Dysphonia
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, generalized
Show more (+6)
n.a.
Yes
n.a.
n.a.
9
30
No
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, limb
Dysarthria
Dystonia, segmental/multifocal
Dystonia, tongue
Dysphonia
Dystonia, jaw
Dystonia, laryngeal
Dystonia, craniofacial
Show more (+8)
Dystonia, arm
No
n.a.
n.a.
13
17
Yes
Dystonia, leg
Dysphonia
Dysarthria
Dystonia, generalized
Dystonia, arm
Dystonia, laryngeal
Dystonia, limb
Dystonia, craniofacial
Dystonia, cervical
Dystonia, jaw
Dystonia, tongue
Dystonia (any or unspecified)
Myoclonus
Show more (+10)
n.a.
p.Ser6Pro: het