LeDoux, 2016: 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.
n.a.
n.a.
n.a.
n.a.
Dystonia (any or unspecified)
Dystonia, cervical
n.a.
c.71+9C>A: het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
n.a.
Dystonia (any or unspecified)
Dystonia, cervical
n.a.
p.Pro19Pro: het
No
n.a.
n.a.
32
n.a.
Yes
Dystonia, limb
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, arm
Show more (+2)
Dystonia, hand
Dystonia, arm
p.Ser51Arg: het
Yes
n.a.
n.a.
55
63
No
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia (any or unspecified)
Tremor, head
Dystonia, arm
Tremor (any or unspecified)
Dystonia, cervical
Dystonia, craniofacial
Show more (+5)
n.a.
Yes
n.a.
n.a.
26
57
Yes
Tremor (any or unspecified)
Dystonia, generalized
Dystonia, cervical
Tremor, head
Dystonia (any or unspecified)
Show more (+2)
n.a.
p.Ser51Arg: het