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