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