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