Vemula, 2013: Overview of all reported DYT-GNAL patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
n.a.
63
67
Yes
Tremor, head
Dystonia, limb
Tremor (any or unspecified)
Dystonia (any or unspecified)
Dystonia, leg
Dystonic tremor
Dystonia, hand
Dystonia, generalized
Dystonia, cervical
Dystonia, arm
Show more (+7)
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
n.a.
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, cervical
n.a.
p.Glu12Gly: het
Yes
C
n.a.
38
56
Yes
Tremor, head
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonic tremor
Dystonia, focal
Dystonia, cervical
Show more (+3)
n.a.
Yes
O
n.a.
45
49
Yes
Dystonia (any or unspecified)
Dystonic tremor
Dystonia, focal
Tremor, head
Tremor (any or unspecified)
Dystonia, cervical
Show more (+3)
n.a.
No
O
n.a.
n.a.
78
Yes
Dystonia, hand
Dystonia, limb
Dystonia, laryngeal
Dystonia, arm
Dystonia, segmental/multifocal
Dysphonia
Dystonia (any or unspecified)
Show more (+4)
n.a.
No
C
n.a.
41
44
Yes
Dystonia (any or unspecified)
Dystonia, focal
Tremor, head
Tremor (any or unspecified)
Dystonia, cervical
Dystonic tremor
Show more (+3)
n.a.
p.Met1?: het
No
O
n.a.
50
80
Yes
Dysphonia
Dystonia, laryngeal
Tremor (any or unspecified)
Dystonia, segmental/multifocal
Tremor, head
Dystonia, oromandibular
Dystonia, lower face
Blepharospasm
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonic tremor
Show more (+9)
n.a.
No
O
n.a.
50
55
Yes
Tremor, head
Dysphonia
Dystonia, limb
Tremor (any or unspecified)
Dystonia, lower face
Dystonia, craniofacial
Dystonia, arm
Dystonia, oromandibular
Dystonia, hand
Dystonic tremor
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, segmental/multifocal
Dystonia, cervical
Show more (+11)
n.a.
Yes
C
n.a.
40
55
Yes
Dystonia, cervical
Dystonia, focal
Dystonia (any or unspecified)
n.a.
p.Met1?: het
Yes
C
n.a.
45
55
Yes
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, cervical
n.a.
p.Arg245*: het