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