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