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