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