Chi, 2012: Overview of all reported DYT/PARK-TH patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
TWN
0
4
No
Autonomic sign/sympt.
Parkinsonism
Oculogyric crisis
Developmental delay
Dyskinesia
Delayed motor development
Hypotonia
Hyperreflexia
Rigidity
Show more (+6)
Oculogyric crisis
p.Arg153*: hom
Yes
A
TWN
0
13
No
Developmental delay
Hypotonia
Tremor (any or unspecified)
Delayed motor development
Hyperreflexia
Parkinsonism
Rigidity
Show more (+4)
Tremor (any or unspecified)
Yes
A
TWN
0
3
No
Hyperreflexia
Oculogyric crisis
Autonomic sign/sympt.
Developmental delay
Dystonia/Parkinsonism
Dystonia (any or unspecified)
Dyskinesia
Parkinsonism
Hypotonia
Rigidity
Delayed motor development
Show more (+8)
Oculogyric crisis
Yes
A
TWN
0
7
No
Developmental delay
Developmental regression
Parkinsonism
Rigidity
Dystonia, cervical
Autonomic sign/sympt.
Bradykinesia
Dystonia, limb
Dyskinesia
Hyperreflexia
Delayed motor development
Upper limb dystonia
Dystonia (any or unspecified)
Hypotonia
Dystonia/Parkinsonism
Diurnal fluctuations
Tremor (any or unspecified)
Show more (+14)
Developmental delay
Hypotonia
Tremor (any or unspecified)
Yes
A
TWN
0
12
n.a.
Postural instability
Sleep disorder
Gait difficulties
Dyskinesia
Dystonia/Parkinsonism
Bradykinesia
Oculogyric crisis
Parkinsonism
Autonomic sign/sympt.
Hyperreflexia
Developmental regression
Tremor (any or unspecified)
Decreased body weight
Delayed motor development
Dystonia (any or unspecified)
Short stature
Rigidity
Hypotonia
Residual motor signs
Developmental delay
Show more (+17)
Oculogyric crisis
Tremor (any or unspecified)
Yes
A
TWN
0
8
No
Tremor (any or unspecified)
Hyperreflexia
Rigidity
Autonomic sign/sympt.
Delayed motor development
Parkinsonism
Oculogyric crisis
Developmental delay
Hypotonia
Show more (+6)
Tremor (any or unspecified)
Oculogyric crisis