Abejero, 2019: Overview of all reported DYT/PARK-TAF1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PHL
|
33
|
35
|
n.a.
|
Dystonia, axial
Dystonia, generalized Dystonia (any or unspecified) Dystonia, combined Show more (+1) |
Dystonia, axial
|
|
Yes
|
♂
|
A
|
PHL
|
29
|
33
|
n.a.
|
Dystonia, cervical
Dystonia, generalized Dystonia, combined Dystonia, axial Dystonia (any or unspecified) Show more (+2) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
44
|
45
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, craniofacial Dystonia, cervical Dystonia, laryngeal Dystonia, combined Dystonia, upper limb Dystonia, segmental/multifocal Show more (+4) |
Dystonia, cervical
Dystonia, upper limb |
|
Yes
|
♂
|
A
|
PHL
|
34
|
36
|
n.a.
|
Dystonia, cervical
Dystonia, craniofacial Dystonia, lower limb Dystonia, upper limb Dystonia, segmental/multifocal Dystonia, combined Dystonia (any or unspecified) Show more (+4) |
Dystonia, craniofacial
Dystonia, upper limb |
|
Yes
|
♂
|
A
|
PHL
|
48
|
57
|
n.a.
|
Dystonia, upper limb
Dystonia (any or unspecified) Dystonia, cervical Dystonia, laryngeal Blepharospasm Dystonia, axial Dystonia, craniofacial Dystonia, generalized Dystonia, combined Show more (+6) |
Blepharospasm
|
|
Yes
|
♂
|
A
|
PHL
|
31
|
32
|
n.a.
|
Dystonia, lower limb
Blepharospasm Dystonia, combined Dystonia (any or unspecified) Dystonia, axial Dystonia, cervical Dystonia, craniofacial Dystonia, generalized Show more (+5) |
Blepharospasm
Dystonia, cervical |
|
Yes
|
♂
|
A
|
PHL
|
31
|
34
|
n.a.
|
Dystonia, generalized
Dystonia, combined Dystonia, axial Dystonia (any or unspecified) Dystonia, cervical Show more (+2) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
46
|
52
|
n.a.
|
Dystonia, cervical
Dystonia, craniofacial Dystonia, combined Dystonia, lower limb Dystonia, laryngeal Dystonia, axial Dystonia (any or unspecified) Dystonia, generalized Show more (+5) |
Dystonia, cervical
Dystonia, craniofacial Dystonia, lower limb |
|
Yes
|
♂
|
A
|
PHL
|
42
|
48
|
n.a.
|
Dystonia, laryngeal
Blepharospasm Dystonia, craniofacial Dystonia, upper limb Dystonia, combined Dystonia, lower limb Dystonia (any or unspecified) Dystonia, axial Dystonia, generalized Show more (+6) |
Blepharospasm
Dystonia, upper limb Dystonia, lower limb |
|
Yes
|
♂
|
A
|
PHL
|
30
|
43
|
n.a.
|
Dystonia, combined
Dystonia, craniofacial Blepharospasm Dystonia (any or unspecified) Dystonia, axial Dystonia, cervical Dystonia, generalized Show more (+4) |
Blepharospasm
|