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