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