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.
|
|
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.
|
|
No
|
♀
|
C
|
POL
|
41
|
43
|
Yes
|
Dystonic tremor
Tremor, head Dystonia (any or unspecified) Tremor (any or unspecified) Show more (+1) |
n.a.
|