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