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
|
Dystonia
Trigger: Alcohol Attacks at rest |
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
|
Dystonia
Attacks - face Attacks at rest |
n.a.
|
|
No
|
♂
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Attacks at rest
Dystonia |
n.a.
|
|
No
|
♂
|
C
|
GRC
|
1
|
n.a.
|
Yes
|
Attacks - face
Attacks at rest |
n.a.
|
|
No
|
♂
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Attacks - neck
Attacks - face Trigger: Alcohol Trigger: Caffeine Trigger: Stress Trigger: Sleep deprivation Attacks – bilateral Trigger: Anxiety Attacks - trunk Speech disturbance Attacks at rest Dystonia Show more (+9) |
n.a.
|
|
No
|
♀
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Attacks at rest
Dystonia Speech disturbance |
n.a.
|
|
No
|
♀
|
C
|
GRC
|
n.a.
|
n.a.
|
Yes
|
Speech disturbance
Dystonia Attacks at rest |
n.a.
|
|
Yes
|
♂
|
C
|
GRC
|
0
|
n.a.
|
Yes
|
Trigger: Stress
Trigger: Anxiety Speech disturbance Attacks at rest Dystonia Trigger: Sleep deprivation Show more (+3) |
n.a.
|