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
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Retrocollis Dystonia, cervical Torticollis Dystonia, limb Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
10
|
n.a.
|
Yes
|
Dysarthria
Dystonia, craniofacial Dystonia, laryngeal Dystonia, limb Dystonia (any or unspecified) Dystonia, generalized Dystonia, axial Dystonia, cervical Dystonia, oromandibular Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, focal |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
7
|
n.a.
|
Yes
|
Dystonia, axial
Dystonia, laryngeal Dystonia, hand Dystonia, tongue Dystonia,task-specific Dystonia, oromandibular Dystonia, limb Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, generalized Dystonia, leg Show more (+8) |
Dystonia, hand
Dystonia, leg |