Clot, 2009: 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
n.a.
n.a.
8
28
n.a.
Dystonia, leg
Dystonia, limb
Dystonia, axial
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, generalized
Show more (+3)
n.a.
c.453+1G>A: het
Yes
n.a.
n.a.
7
12
n.a.
Dystonia (any or unspecified)
Dystonia, foot
Lower limb dystonia
Dystonia, limb
Dystonia, focal
Show more (+2)
n.a.
c.626+1G>A: het
Yes
n.a.
n.a.
17
25
n.a.
Dystonia, limb
Dystonia, focal
Lower limb dystonia
Dystonia, foot
Dystonia (any or unspecified)
Show more (+2)
n.a.
p.Gln188*: het
Yes
n.a.
n.a.
9
13
n.a.
Dystonia, leg
Lower limb dystonia
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, limb
Show more (+2)
n.a.
Yes
n.a.
n.a.
6
30
n.a.
Lower limb dystonia
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, limb
Show more (+2)
n.a.
p.Ala99Pro: het
Yes
n.a.
n.a.
5
12
n.a.
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Lower limb dystonia
Dystonia, limb
Show more (+2)
n.a.
Yes
n.a.
n.a.
19
21
No
Dystonia, limb
Lower limb dystonia
Dystonia, foot
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Show more (+2)
n.a.
Yes
n.a.
n.a.
8
28
n.a.
Lower limb dystonia
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, limb
Show more (+2)
n.a.
Yes
n.a.
n.a.
n.a.
22
n.a.
Dystonia, limb
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, leg
Show more (+1)
n.a.
Yes
n.a.
n.a.
6
10
n.a.
Lower limb dystonia
Dystonia, segmental/multifocal
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, limb
Show more (+2)
n.a.
-22C>T: het