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