Weber, 2011: Overview of all reported PxMD-SLC2A1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
DEU
n.a.
n.a.
Yes
Dystonia
Chorea
Athetosis
Trigger: Exercise
Show more (+1)
n.a.
No
C
DEU
6
16
Yes
Chorea
Epileptic seizures (of any type)
Migraine (any subclass)
Athetosis
Dystonia
Trigger: Exercise
Show more (+3)
n.a.
No
C
DEU
14
26
Yes
Attacks – bilateral
Chorea
Athetosis
Dystonia
Trigger: Exercise
Show more (+2)
n.a.
Yes
C
DEU
5
49
Yes
Trigger: Anxiety
Chorea
Trigger: Stress
Athetosis
Attacks - face
Speech disturbance
Attacks – bilateral
Delayed cognitive development
Dystonia
Migraine (any subclass)
Trigger: Exercise
Postural instability
Show more (+9)
n.a.
No
C
DEU
3
74
Yes
Bradykinesia
Dystonia
Athetosis
Ataxia
Trigger: Exercise
Migraine (any subclass)
Chorea
Show more (+4)
n.a.
No
C
DEU
10
42
Yes
Athetosis
Chorea
Trigger: Exercise
Ataxia
Dystonia
Show more (+2)
n.a.
No
C
DEU
7
47
Yes
Athetosis
Dystonia
Migraine (any subclass)
Chorea
Ataxia
Delayed cognitive development
Show more (+3)
n.a.
No
C
DEU
7
29
Yes
Athetosis
Delayed cognitive development
Ataxia
Bradykinesia
Migraine (any subclass)
Dystonia
Chorea
Show more (+4)
n.a.
No
C
DEU
10
50
Yes
Dystonia
Bradykinesia
Trigger: Stress
Trigger: Anxiety
Athetosis
Ataxia
Chorea
Show more (+4)
n.a.
Yes
C
AUS
n.a.
41
Yes
Athetosis
Trigger: Prolonged fasting
Trigger: Stress
Trigger: Exercise
Dystonia
Trigger: Anxiety
Chorea
Show more (+4)
n.a.