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