Krause, 2015: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
20
|
n.a.
|
Yes
|
Retrocollis
Dystonia, segmental/multifocal Dystonia, cervical Dystonia (any or unspecified) Torticollis Dystonia, limb Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
10
|
n.a.
|
Yes
|
Dystonia, axial
Dystonia, generalized Dystonia, limb Dystonia, oromandibular Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, craniofacial Dysarthria Dystonia, cervical Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Dystonia, focal Dystonia, cervical |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
7
|
n.a.
|
Yes
|
Dystonia, hand
Dystonia, axial Dystonia, oromandibular Dystonia, tongue Dystonia (any or unspecified) Dystonia, limb Dystonia, laryngeal Dystonia, generalized Dystonia, leg Dystonia, craniofacial Dystonia,task-specific Show more (+8) |
Dystonia, hand
Dystonia, leg |