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