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