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