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