Bruno, 2007: 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.
|
ITA
|
n.a.
|
n.a.
|
Yes
|
Trigger: Alcohol
Trigger: Caffeine Trigger: Sleep deprivation Chorea Dystonia Attacks at rest Trigger: Stress Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
ITA
|
n.a.
|
n.a.
|
Yes
|
Attacks at rest
Trigger: Caffeine Dystonia Trigger: Stress Trigger: Sleep deprivation Chorea Trigger: Alcohol Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
RUS
|
n.a.
|
n.a.
|
Yes
|
Dystonia
Trigger: Exercise Trigger: Caffeine Trigger: Stress Trigger: Alcohol Attacks – bilateral Sleep benefit Attacks at rest Attacks - trunk Chorea Show more (+7) |
n.a.
|
|
No
|
♂
|
n.a.
|
ITA
|
n.a.
|
n.a.
|
Yes
|
Trigger: Stress
Trigger: Caffeine Trigger: Sleep deprivation Chorea Attacks at rest Dystonia Trigger: Alcohol Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
BEL
|
n.a.
|
n.a.
|
Yes
|
Trigger: Stress
Attacks at rest Dystonia Chorea Trigger: Alcohol Sleep benefit Trigger: Caffeine Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
CAN
|
n.a.
|
n.a.
|
Yes
|
Attacks at rest
Chorea Trigger: Caffeine Trigger: Alcohol Sleep benefit Dystonia Trigger: Stress Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
DEU
|
n.a.
|
n.a.
|
Yes
|
Attacks at rest
Trigger: Alcohol Trigger: Exercise Dystonia Trigger: Caffeine Chorea Sleep benefit Trigger: Stress Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
RUS
|
n.a.
|
n.a.
|
Yes
|
Attacks – bilateral
Trigger: Alcohol Chorea Dystonia Trigger: Stress Attacks at rest Trigger: Caffeine Trigger: Exercise Sleep benefit Attacks - trunk Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
n.a.
|
Yes
|
Attacks at rest
Trigger: Exercise Sleep benefit Chorea Dystonia Trigger: Alcohol Trigger: Stress Trigger: Caffeine Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
ITA
|
n.a.
|
n.a.
|
Yes
|
Trigger: Sleep deprivation
Attacks at rest Trigger: Alcohol Trigger: Caffeine Chorea Dystonia Trigger: Stress Show more (+4) |
n.a.
|