Brüggemann, 2016: 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
|
46
|
49
|
n.a.
|
Resting tremor
Dystonia, generalized Tremor (any or unspecified) Bradykinesia Dystonia, upper limb Rigidity Dystonia, cervical Dystonia, combined Dystonia, axial Dystonia, lower limb Tremor, action Postural instability Dystonia (any or unspecified) Dystonia, craniofacial Parkinsonism Show more (+12) |
Tremor, action
|
|
Yes
|
♂
|
A
|
PHL
|
47
|
52
|
n.a.
|
Dystonia, axial
Dystonia, craniofacial Dystonia, generalized Rigidity Resting tremor Dystonia, cervical Bradykinesia Dystonia, combined Parkinsonism Postural instability Dystonia, lower limb Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, upper limb Show more (+11) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
31
|
36
|
n.a.
|
Dystonia, axial
Dystonia, combined Dystonia, generalized Dystonia, cervical Parkinsonism Dystonia, upper limb Dystonia (any or unspecified) Postural instability Dystonia, craniofacial Bradykinesia Rigidity Dystonia, lower limb Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
32
|
34
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, axial Bradykinesia Dystonia, upper limb Rigidity Postural instability Parkinsonism Dystonia, craniofacial Dystonia, lower limb Dystonia, combined Dystonia, cervical Dystonia, generalized Show more (+9) |
Dystonia, upper limb
|
|
Yes
|
♂
|
A
|
PHL
|
48
|
51
|
n.a.
|
Parkinsonism
Postural instability Bradykinesia Dystonia, axial Dystonia, craniofacial Dystonia, combined Dystonia, generalized Dystonia (any or unspecified) Dystonia, lower limb Dystonia, upper limb Dystonia, cervical Rigidity Show more (+9) |
Dystonia, lower limb
|
|
Yes
|
♂
|
A
|
PHL
|
38
|
44
|
n.a.
|
Rigidity
Resting tremor Dystonia, cervical Bradykinesia Dystonia, combined Dystonia, generalized Dystonia, upper limb Postural instability Tremor (any or unspecified) Dystonia, craniofacial Dystonia, lower limb Parkinsonism Dystonia (any or unspecified) Show more (+10) |
Dystonia, upper limb
|
|
Yes
|
♂
|
A
|
PHL
|
29
|
34
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, upper limb Dystonia, axial Bradykinesia Dystonia, generalized Blepharospasm Dystonia, lower limb Rigidity Dystonia, combined Parkinsonism Postural instability Dystonia, craniofacial Dystonia, cervical Show more (+10) |
Dystonia, craniofacial
|
|
Yes
|
♂
|
A
|
PHL
|
34
|
35
|
n.a.
|
Parkinsonism
Dystonia, generalized Dystonia, upper limb Postural instability Rigidity Dysarthria Dystonia, combined Dystonia (any or unspecified) Dystonia, lower limb Bradykinesia Show more (+7) |
Dysarthria
|