Hempelmann, 2006: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Aura preceding attacks
Attacks – bilateral Trigger: Sleep deprivation Chorea Athetosis Speech disturbance Attacks - face Dystonia Attacks - trunk Trigger: Stress Attacks at rest Attacks - neck Show more (+9) |
n.a.
|
|
Yes
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Athetosis
Trigger: Stress Chorea Aura preceding attacks Speech disturbance Dystonia Attacks - face Attacks - trunk Attacks at rest Attacks - neck Attacks – bilateral Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Attacks – bilateral
Attacks - neck Attacks - trunk Aura preceding attacks Attacks - face Athetosis Trigger: Stress Trigger: Sleep deprivation Attacks at rest Dystonia Speech disturbance Chorea Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Trigger: Sleep deprivation
Attacks at rest Chorea Attacks - trunk Attacks – bilateral Attacks - neck Aura preceding attacks Attacks - face Speech disturbance Athetosis Dystonia Trigger: Stress Show more (+9) |
n.a.
|
|
No
|
♂
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Trigger: Stress
Dystonia Attacks - neck Attacks - trunk Chorea Attacks - face Trigger: Sleep deprivation Athetosis Speech disturbance Attacks – bilateral Attacks at rest Aura preceding attacks Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Chorea
Trigger: Stress Attacks - neck Attacks – bilateral Attacks - trunk Aura preceding attacks Speech disturbance Attacks at rest Trigger: Sleep deprivation Athetosis Attacks - face Dystonia Show more (+9) |
n.a.
|