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