Furukawa, 1996: 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
♀
C
n.a.
5
8
n.a.
Upper limb dystonia
Dystonia, limb
Dystonia, arm
Lower limb dystonia
Dystonia, segmental/multifocal
Dystonia, foot
Dystonia (any or unspecified)
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Dystonia, foot
p.Glu65*: het
Yes
♂
A
JPN
6
9
n.a.
Hyperreflexia
Lower limb dystonia
Dystonia, segmental/multifocal
Diurnal fluctuations
Dystonia, foot
Upper limb dystonia
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, limb
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Dystonia, foot
p.Ser114*: het
Yes
♀
A
JPN
3
11
n.a.
Rigidity
Dystonia, foot
Dystonia, arm
Dystonia, leg
Dystonia, limb
Dystonia, hand
Hyperreflexia
Diurnal fluctuations
Dystonia (any or unspecified)
Upper limb dystonia
Lower limb dystonia
Dystonia, segmental/multifocal
Show more (+9)
Dystonia (any or unspecified)