Horvath, 2008: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
PAK
1
3
n.a.
Dystonia, foot
Decreased body weight
Motor delay
Muscular hypotonia
Spasticity
Global developmental delay
Parkinsonism
Dystonia, leg
Lower limb dystonia
Dystonia, limb
Dystonia/Parkinsonism
Developmental regression
Delayed speech and language development
Dystonia (any or unspecified)
Microcephaly
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Dystonia, limb
No
A
PAK
0
2
n.a.
Developmental regression
Spasticity
Dystonia (any or unspecified)
Global developmental delay
Dystonia, limb
Parkinsonism
Motor delay
Dystonia/Parkinsonism
Muscular hypotonia
Delayed speech and language development
Tremor (any or unspecified)
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Tremor (any or unspecified)