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