Nardocci, 2008: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
C
ITA
6
19
Yes
Myoclonus, lower limb
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus at rest
Myoclonus,generalized
Myoclonus, axial
Myoclonus, cervical
Myoclonus, face
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, truncal
Dystonia, upper limb
Myoclonus
Show more (+10)
n.a.
Yes
n.a.
C
ITA
5
28
Yes
Dystonia (any or unspecified)
Myoclonus, lower limb
Myoclonus
Dystonia, truncal
Dystonia, upper limb
Myoclonus, face
Myoclonus, Upper Limb
Myoclonus, axial
Myoclonus, cervical
Dystonia, cervical
Myoclonus,generalized
Myoclonus, action
Show more (+9)
n.a.
p.Trp270*: het
No
C
ITA
6
48
Yes
Myoclonus, action
Myoclonus
Myoclonus, Upper Limb
n.a.
p.Arg102*: het
Yes
n.a.
C
ITA
2
6
Yes
Myoclonus, axial
Myoclonus, cervical
Dystonia (any or unspecified)
Myoclonus at rest
Myoclonus, Upper Limb
Myoclonus, action
Dystonia, upper limb
Myoclonus
Myoclonus,generalized
Show more (+6)
n.a.
p.Arg102*: het
No
n.a.
C
ITA
1
3
Yes
Myoclonus
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus, multifocal
Myoclonus, axial
Show more (+2)
n.a.
Yes
n.a.
C
ITA
1
21
Yes
Myoclonus, axial
Dystonia, cervical
Myoclonus,generalized
Myoclonus
Dystonia, upper limb
Myoclonus, cervical
Myoclonus, action
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Show more (+6)
n.a.
No
n.a.
C
ITA
1
25
Yes
Myoclonus, cervical
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus,generalized
Myoclonus, axial
Myoclonus
Show more (+3)
n.a.
Yes
n.a.
C
ITA
3
8
Yes
Myoclonus,generalized
Myoclonus, cervical
Writer's Cramp
Myoclonus at rest
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus
Myoclonus, action
Myoclonus, face
Show more (+6)
n.a.
c.663-1G>A: het
No
n.a.
C
ITA
1
18
Yes
Myoclonus, axial
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus,generalized
Myoclonus, cervical
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus
Dystonia, upper limb
Show more (+6)
n.a.
Yes
n.a.
B
MAR
4
15
Yes
Dystonia (any or unspecified)
Writer's Cramp
Myoclonus,generalized
Myoclonus, axial
Myoclonus
Myoclonus at rest
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus, cervical
Show more (+6)
n.a.
p.Tyr134*: het
Yes
C
ITA
2
19
Yes
Myoclonus, Upper Limb
Myoclonus,generalized
Myoclonus
Myoclonus, face
Myoclonus, action
Myoclonus, lower limb
Myoclonus, axial
Myoclonus, cervical
Show more (+5)
n.a.
p.Arg102*: het
No
n.a.
C
ITA
12
41
Yes
Myoclonus, face
Myoclonus, cervical
Myoclonus
Obssesive Compulsive Disorder
Myoclonus, Upper Limb
Myoclonus, multifocal
Show more (+3)
n.a.
c.233-1G>T: het
No
n.a.
C
ITA
6
47
Yes
Dystonia (any or unspecified)
Writer's Cramp
n.a.
c.663-1G>A: het
Yes
n.a.
C
ITA
2
8
No
Myoclonus, cervical
Myoclonus, Upper Limb
Myoclonus, multifocal
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus, action
Myoclonus
Show more (+4)
n.a.
c.826-1G>A: het
Yes
n.a.
C
ITA
6
14
Yes
Myoclonus, cervical
Myoclonus, action
Myoclonus, multifocal
Myoclonus, Upper Limb
Myoclonus
Show more (+2)
n.a.
c.233-1G>T: het