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