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