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