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
|
Dystonia, lower face
Dystonia, tongue Retrocollis Blepharospasm Dystonia, jaw Dystonia, leg Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, limb Dystonia, craniofacial Dysphonia Dystonia, oromandibular Dystonia, cervical Dystonia, foot Dystonia, arm Dystonia, generalized Dystonia, laryngeal Dystonia, axial Geste antagoniste Torticollis Tremor, limb Show more (+18) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
24
|
Yes
|
Dystonia, foot
Dystonic tremor Dystonia,task-specific Dystonia (any or unspecified) Dystonia, cervical Dystonia, segmental/multifocal Tremor (any or unspecified) Dystonia, leg Dystonia, hand Dystonia, limb Torticollis Tremor, limb Dystonia, arm Show more (+10) |
n.a.
|
|
No
|
♂
|
C
|
POL
|
20
|
20
|
Yes
|
Dystonia (any or unspecified)
Dystonic tremor Dystonia, focal Dystonia, arm Tremor, action Dystonia, limb Tremor (any or unspecified) Tremor, limb Postural tremor Show more (+6) |
Dystonia, arm
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
40
|
47
|
No
|
Dysarthria
Dystonia (any or unspecified) Dystonia, craniofacial Tremor, limb Dystonia, segmental/multifocal Dystonia, tongue Dystonia, laryngeal Retrocollis Dystonia, jaw Blepharospasm Dystonia, oromandibular Dystonia, cervical Dystonia, limb Tremor (any or unspecified) Dystonic tremor Dystonia, arm Dysphonia Dystonia, lower face Show more (+15) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
24
|
No
|
Dystonia, hand
Dystonia, cervical Dystonia, segmental/multifocal Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, arm Tremor (any or unspecified) Dystonia, lower face Tremor, limb Dysphonia Dystonia, limb Dystonia, oromandibular Dystonic tremor Dystonia, craniofacial Dystonia, jaw Dystonia, tongue Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
POL
|
23
|
50
|
Yes
|
Dystonia, leg
Dystonia, hand Dystonia (any or unspecified) Dystonia, cervical Tremor, action Dystonia, limb Dystonia,task-specific Dystonic tremor Tremor, limb Tremor (any or unspecified) Dystonia, arm Torticollis Dystonia, segmental/multifocal Show more (+10) |
Dystonia, hand
Dystonia, arm |
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
26
|
Yes
|
Dystonia, leg
Dystonia, limb Dystonia, foot Dystonia, segmental/multifocal Dystonia,task-specific Dystonia, hand Dystonia, arm Dystonia (any or unspecified) Show more (+5) |
Dystonia, hand
Dystonia, arm |