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