Jurek, 2014: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
C
POL
4
n.a.
Yes
Dystonia, laryngeal
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, jaw
Dystonia, limb
Dystonia, hand
Dystonia, axial
Dystonia, foot
Dystonia, oromandibular
Dystonia, generalized
Dysphonia
Dystonia, tongue
Dystonia, arm
Dystonia, craniofacial
Dystonia, lower face
Show more (+13)
n.a.
p.Cys5Trp: het
Yes
♀
C
POL
47
50
Yes
Dystonia, focal
Dystonia (any or unspecified)
Retrocollis
Tremor, head
Tremor (any or unspecified)
Dystonia, cervical
Show more (+3)
n.a.
p.Cys5Trp: het
No
♀
C
POL
41
43
Yes
Dystonia (any or unspecified)
Dystonic tremor
Tremor (any or unspecified)
Tremor, head
Show more (+1)
n.a.
p.Cys5Trp: het