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