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