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