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