Pons, 2012: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Trigger: Alcohol
Attacks at rest Dystonia |
n.a.
|
|
No
|
♂
|
C
|
GRC
|
2
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♀
|
C
|
GRC
|
2
|
n.a.
|
Yes
|
Attacks at rest
Attacks - face Dystonia |
n.a.
|
|
No
|
♂
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Attacks at rest
Dystonia |
n.a.
|
|
No
|
♂
|
C
|
GRC
|
1
|
n.a.
|
Yes
|
Attacks at rest
Attacks - face |
n.a.
|
|
No
|
♂
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Dystonia
Attacks at rest Trigger: Sleep deprivation Attacks - face Attacks - neck Trigger: Stress Trigger: Anxiety Trigger: Alcohol Attacks - trunk Attacks – bilateral Speech disturbance Trigger: Caffeine Show more (+9) |
n.a.
|
|
No
|
♀
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Dystonia
Attacks at rest Speech disturbance |
n.a.
|
|
No
|
♀
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Speech disturbance
Attacks at rest Dystonia |
n.a.
|
|
Yes
|
♂
|
C
|
GRC
|
0
|
n.a.
|
Yes
|
Dystonia
Speech disturbance Attacks at rest Trigger: Anxiety Trigger: Sleep deprivation Trigger: Stress Show more (+3) |
n.a.
|