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