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