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