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