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, cervical
Dystonia (any or unspecified)
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, arm
Dystonia, hand
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, limb
Show more (+2)
Dystonia, arm
Dystonia, hand
p.Ser51Arg: het
Yes
n.a.
n.a.
55
63
No
Dystonia (any or unspecified)
Dystonia, limb
Tremor (any or unspecified)
Dystonia, cervical
Dystonia, arm
Tremor, head
Dystonia, craniofacial
Dystonia, segmental/multifocal
Show more (+5)
n.a.
Yes
n.a.
n.a.
26
57
Yes
Dystonia, cervical
Tremor, head
Dystonia, generalized
Dystonia (any or unspecified)
Tremor (any or unspecified)
Show more (+2)
n.a.
p.Ser51Arg: het