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