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