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, foot
Dystonia, hand
Dystonia, craniofacial
Dystonia, axial
Dysphonia
Dystonia, arm
Dystonia, laryngeal
Dystonia, oromandibular
Dystonia, cervical
Dystonia, limb
Dystonia, lower face
Dystonia, leg
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, generalized
Show more (+13)
n.a.
p.Cys5Trp: het
Yes
C
POL
47
50
Yes
Tremor (any or unspecified)
Dystonia (any or unspecified)
Tremor, head
Retrocollis
Dystonia, focal
Dystonia, cervical
Show more (+3)
n.a.
p.Cys5Trp: het
No
C
POL
41
43
Yes
Dystonia (any or unspecified)
Tremor (any or unspecified)
Tremor, head
Dystonic tremor
Show more (+1)
n.a.
p.Cys5Trp: het