Leuzzi, 2013: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
C
ITA
n.a.
36
n.a.
Dystonia, foot
Dystonia, focal
Lower limb dystonia
Dystonia (any or unspecified)
Rigidity
Dystonia, limb
Diurnal fluctuations
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Dystonia, foot
Yes
♀
C
ITA
1
8
n.a.
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, leg
Rigidity
Lower limb dystonia
Diurnal fluctuations
Bradykinesia
Parkinsonism
Dystonia, cervical
Dystonia/Parkinsonism
Dystonia, limb
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Dystonia, foot