Hagenah, 2005: 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
GBR
11
25
n.a.
Dystonia, limb
Lower limb dystonia
Dystonia, leg
Dystonia, generalized
Dystonia, axial
Dystonia (any or unspecified)
Show more (+3)
Dystonia, leg
p.Thr94Lys: het
Yes
C
ITA
5
37
n.a.
Dystonia, segmental/multifocal
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, arm
Upper limb dystonia
Lower limb dystonia
Show more (+4)
Dystonia, leg
Yes
C
GBR
9
16
n.a.
Dystonia, limb
Dystonia, leg
Upper limb dystonia
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, arm
Lower limb dystonia
Show more (+4)
Dystonia, leg
Yes
C
ITA
7
38
n.a.
Dystonia (any or unspecified)
Upper limb dystonia
Dystonia, leg
Lower limb dystonia
Dystonia, arm
Dystonia, limb
Dystonia, segmental/multifocal
Show more (+4)
Dystonia, leg
Yes
JA
POL
10
14
n.a.
Dystonia, leg
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, limb
Lower limb dystonia
Show more (+2)
Dystonia, leg
p.Leu91Arg: het
Yes
C
n.a.
12
17
n.a.
Dystonia, leg
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, limb
Dystonia, focal
Show more (+2)
Dystonia, leg
Yes
C
n.a.
5
17
n.a.
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, limb
Dystonia, leg
Dystonia, segmental/multifocal
Upper limb dystonia
Dystonia, arm
Show more (+4)
Dystonia, leg
Yes
C
n.a.
11
35
n.a.
Lower limb dystonia
Upper limb dystonia
Dystonia, limb
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, leg
Show more (+4)
Dystonia, leg
Yes
C
PRT
6
34
n.a.
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, lower face
Lower limb dystonia
Upper limb dystonia
Dystonia, cervical
Dystonia, arm
Dystonia, leg
Dystonia, limb
Show more (+7)
Dystonia, leg
c.541+1G>A: het
Yes
n.a.
n.a.
3
40
n.a.
Lower limb dystonia
Dystonia, arm
Dystonia, leg
Dystonia, limb
Upper limb dystonia
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Show more (+4)
Dystonia, limb