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.
|
Trigger: Stress
Attacks – bilateral Chorea Attacks at rest Attacks - neck Athetosis Trigger: Prolonged fasting Dystonia Attacks - face Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
30
|
n.a.
|
Chorea
Aura preceding attacks Attacks - face Attacks at rest Dystonia Trigger: Caffeine Athetosis Trigger: Prolonged fasting Attacks - trunk Trigger: Stress Attacks – bilateral Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
28
|
n.a.
|
Attacks - neck
Trigger: Prolonged fasting Attacks – bilateral Dystonia Trigger: Sleep deprivation Attacks at rest Trigger: Caffeine Trigger: Stress Aura preceding attacks Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
22
|
n.a.
|
Athetosis
Aura preceding attacks Trigger: Sleep deprivation Attacks - neck Chorea Trigger: Stress Attacks - face Trigger: Caffeine Attacks at rest Attacks – bilateral Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
50
|
n.a.
|
Aura preceding attacks
Trigger: Stress Chorea Speech disturbance Trigger: Caffeine Attacks at rest Dystonia Athetosis Attacks - face Attacks – bilateral Show more (+7) |
n.a.
|