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