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
Trigger: Stress
Chorea
Dystonia
Trigger: Sleep deprivation
Trigger: Alcohol
Trigger: Caffeine
Show more (+4)
n.a.
p.Ala7Val: het
No
n.a.
ITA
n.a.
n.a.
Yes
Trigger: Stress
Chorea
Trigger: Alcohol
Trigger: Caffeine
Attacks at rest
Trigger: Sleep deprivation
Dystonia
Show more (+4)
n.a.
p.Ala7Val: het
Yes
n.a.
ITA
n.a.
n.a.
Yes
Attacks at rest
Trigger: Stress
Trigger: Sleep deprivation
Chorea
Dystonia
Trigger: Caffeine
Trigger: Alcohol
Show more (+4)
n.a.
p.Ala7Val: het
No
n.a.
CAN
n.a.
n.a.
Yes
Dystonia
Trigger: Caffeine
Chorea
Attacks at rest
Sleep benefit
Trigger: Stress
Trigger: Alcohol
Show more (+4)
n.a.
p.Ala7Val: het
No
n.a.
ITA
n.a.
n.a.
Yes
Chorea
Dystonia
Trigger: Caffeine
Attacks at rest
Trigger: Sleep deprivation
Trigger: Alcohol
Trigger: Stress
Show more (+4)
n.a.
p.Ala7Val: het
No
n.a.
CAN
n.a.
n.a.
Yes
Trigger: Caffeine
Sleep benefit
Trigger: Stress
Trigger: Alcohol
Chorea
Attacks at rest
Dystonia
Show more (+4)
n.a.
p.Ala7Val: het
Yes
n.a.
BEL
n.a.
n.a.
Yes
Attacks at rest
Chorea
Trigger: Alcohol
Sleep benefit
Dystonia
Trigger: Stress
Trigger: Caffeine
Show more (+4)
n.a.
p.Ala7Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Chorea
Trigger: Exercise
Attacks at rest
Trigger: Alcohol
Sleep benefit
Trigger: Caffeine
Trigger: Stress
Dystonia
Show more (+5)
n.a.
p.Ala7Val: het
Yes
n.a.
DEU
n.a.
n.a.
Yes
Sleep benefit
Dystonia
Trigger: Exercise
Trigger: Alcohol
Trigger: Stress
Attacks at rest
Trigger: Caffeine
Chorea
Show more (+5)
n.a.
p.Ala7Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Dystonia
Trigger: Alcohol
Sleep benefit
Trigger: Exercise
Trigger: Stress
Attacks at rest
Trigger: Caffeine
Chorea
Show more (+5)
n.a.
p.Ala7Val: het