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