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