LeDoux, 2012: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
44
|
Yes
|
Retrocollis
Dystonia, limb Geste antagoniste Dystonia, generalized Dystonia, lower face Dystonia, leg Dystonia, jaw Dystonia, foot Dystonia (any or unspecified) Dystonia, oromandibular Dystonia, arm Blepharospasm Dystonia, cervical Tremor (any or unspecified) Dysphonia Torticollis Dystonia, craniofacial Dystonia, axial Dystonia, tongue Dystonia, laryngeal Tremor, limb Show more (+18) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
24
|
Yes
|
Torticollis
Dystonia, limb Dystonia, arm Dystonia,task-specific Dystonia, segmental/multifocal Dystonia, cervical Dystonia, leg Dystonia, foot Tremor (any or unspecified) Dystonic tremor Dystonia, hand Dystonia (any or unspecified) Tremor, limb Show more (+10) |
n.a.
|
|
No
|
♂
|
C
|
POL
|
20
|
20
|
Yes
|
Dystonia, arm
Tremor (any or unspecified) Dystonic tremor Dystonia (any or unspecified) Dystonia, focal Tremor, limb Postural tremor Dystonia, limb Tremor, action Show more (+6) |
Dystonia, arm
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
40
|
47
|
No
|
Retrocollis
Dystonia, segmental/multifocal Dystonia, arm Tremor (any or unspecified) Dystonic tremor Dystonia, oromandibular Dystonia, limb Blepharospasm Dystonia, laryngeal Dystonia, tongue Dystonia, lower face Dystonia, cervical Dysarthria Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, jaw Dysphonia Tremor, limb Show more (+15) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
24
|
No
|
Dystonia, limb
Dystonia (any or unspecified) Dysphonia Tremor, limb Dystonia, craniofacial Dystonia, oromandibular Dystonia, tongue Tremor (any or unspecified) Dystonia, cervical Dystonia, laryngeal Dystonia, jaw Dystonia, lower face Dystonia, hand Dystonia, segmental/multifocal Dystonia, arm Dystonic tremor Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
POL
|
23
|
50
|
Yes
|
Dystonia, segmental/multifocal
Tremor, action Dystonia (any or unspecified) Tremor, limb Torticollis Dystonic tremor Dystonia, hand Tremor (any or unspecified) Dystonia, limb Dystonia, cervical Dystonia,task-specific Dystonia, leg Dystonia, arm Show more (+10) |
Dystonia, hand
Dystonia, arm |
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
26
|
Yes
|
Dystonia, arm
Dystonia, foot Dystonia,task-specific Dystonia, hand Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, leg Dystonia, limb Show more (+5) |
Dystonia, arm
Dystonia, hand |