Stefanova, 2006: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
SRB
|
0
|
15
|
n.a.
|
Dystonia
Attacks at rest Attacks - neck Trigger: Stress Chorea Attacks - face Trigger: Prolonged fasting Athetosis Attacks – bilateral Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
30
|
n.a.
|
Trigger: Prolonged fasting
Attacks - face Attacks - trunk Athetosis Attacks – bilateral Aura preceding attacks Chorea Trigger: Stress Attacks at rest Trigger: Caffeine Dystonia Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
28
|
n.a.
|
Attacks – bilateral
Trigger: Caffeine Attacks at rest Aura preceding attacks Trigger: Prolonged fasting Trigger: Sleep deprivation Dystonia Attacks - neck Trigger: Stress Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
22
|
n.a.
|
Aura preceding attacks
Attacks at rest Attacks - face Trigger: Stress Attacks - neck Trigger: Sleep deprivation Attacks – bilateral Chorea Athetosis Trigger: Caffeine Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
50
|
n.a.
|
Trigger: Stress
Athetosis Dystonia Trigger: Caffeine Attacks - face Aura preceding attacks Speech disturbance Chorea Attacks – bilateral Attacks at rest Show more (+7) |
n.a.
|