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