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